nsv4517016
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:261
- Publication(s):gnomAD_Structural_Variants
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: 163 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4517016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,966,531 | 79,966,791 |
| nsv4517016 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,829 |
| nsv4517016 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000023.10 | ChrX | 79,222,030 | 79,222,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15944274 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15944274 | Remapped | Perfect | NT_187635.1:g.1425 69_142829del | GRCh38.p12 | Second Pass | NT_187635.1 | ChrX|NT_18 7635.1 | 142,569 | 142,829 |
| nssv15944274 | Remapped | Perfect | NC_000023.11:g.799 66531_79966791del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,966,531 | 79,966,791 |
| nssv15944274 | Submitted genomic | NC_000023.10:g.792 22030_79222290del | GRCh37.p13 | NC_000023.10 | ChrX | 79,222,030 | 79,222,290 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15944274 | 0.158 | 3428 | 21632 |