nsv4771607
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:172
- Publication(s):Abel et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 406 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4771607 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nsv4771607 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,740 |
| nsv4771607 | 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 |
|---|---|---|---|
| nssv16382725 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16382725 | 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 |
| nssv16382725 | Remapped | Perfect | NC_000023.11:g.799 66620_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,620 | 79,966,791 |
| nssv16382725 | 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) |
|---|---|---|---|
| nssv16382725 | 0.201 | 3380 | 16834 |