nsv4634398
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:313
- Description:nsv4254435 from gnomAD Structural Variants and nsv5530446 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 134 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4634398 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 71,856,013 | 71,856,325 |
| nsv4634398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 69,852,154 | 69,852,466 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16164892 | deletion | Curated | Curated |
| nssv17968296 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16164892 | Remapped | Perfect | NC_000017.11:g.718 56013_71856325del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,856,013 | 71,856,325 |
| nssv17968296 | Remapped | Perfect | NC_000017.11:g.718 56013_71856325del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,856,013 | 71,856,325 |
| nssv16164892 | Submitted genomic | NC_000017.10:g.698 52154_69852466del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 69,852,154 | 69,852,466 | ||
| nssv17968296 | Submitted genomic | NC_000017.10:g.698 52154_69852466del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 69,852,154 | 69,852,466 |
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) |
|---|---|---|---|
| nssv16164892 | 0.743 | 15312 | 20614 |
| nssv17968296 | 0.801 | 5128 | 6404 |