nsv5385065
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:172
- Description:nsv4771607 from Abel et. al 2020 and nsv5427044 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 254 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385065 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nsv5385065 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,740 |
| nsv5385065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 79,222,119 | 79,222,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16876426 | deletion | Curated | Curated |
| nssv16877016 | deletion | Curated | Curated |
| nssv17968442 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16876426 | Remapped | Perfect | NT_187635.1:g.1425 69_142740del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,740 |
| nssv16877016 | Remapped | Perfect | NT_187635.1:g.1425 69_142740del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,740 |
| nssv17968442 | Remapped | Perfect | NT_187635.1:g.1425 69_142740del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,740 |
| nssv16876426 | Remapped | Perfect | NC_000023.11:g.799 66620_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nssv16877016 | Remapped | Perfect | NC_000023.11:g.799 66620_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nssv17968442 | Remapped | Perfect | NC_000023.11:g.799 66620_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nssv16876426 | Submitted genomic | NC_000023.10:g.792 22119_79222290del | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,222,119 | 79,222,290 | ||
| nssv16877016 | Submitted genomic | NC_000023.10:g.792 22119_79222290del | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,222,119 | 79,222,290 | ||
| nssv17968442 | Submitted genomic | NC_000023.10:g.792 22119_79222290del | GRCh37 (hg19) | NC_000023.10 | ChrX | 79,222,119 | 79,222,290 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16876426 | 0.201 | 3380 | 16834 |
| nssv16877016 | 0.22 | 6426 | 29246 |
| nssv17968442 | 0.204 | 1305 | 6404 |