nsv4649625
- 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:48,304
- Description:nsv4121508 from gnomAD Structural Variants and nsv4931662 from Abel et. al 2020. 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: 814 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 814 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4649625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 97,712,151 | 97,760,454 |
| nsv4649625 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 97,047,855 | 97,096,158 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16155929 | deletion | Curated | Curated |
| nssv16874320 | deletion | Curated | Curated |
| nssv16888490 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16155929 | Remapped | Perfect | NC_000005.10:g.977 12151_97760454del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,712,151 | 97,760,454 |
| nssv16874320 | Remapped | Perfect | NC_000005.10:g.977 12151_97760454del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,712,151 | 97,760,454 |
| nssv16888490 | Remapped | Perfect | NC_000005.10:g.977 12151_97760454del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 97,712,151 | 97,760,454 |
| nssv16155929 | Submitted genomic | NC_000005.9:g.9704 7855_97096158del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,855 | 97,096,158 | ||
| nssv16874320 | Submitted genomic | NC_000005.9:g.9704 7855_97096158del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,855 | 97,096,158 | ||
| nssv16888490 | Submitted genomic | NC_000005.9:g.9704 7855_97096158del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 97,047,855 | 97,096,158 |
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) |
|---|---|---|---|
| nssv16155929 | 0.011 | 236 | 21694 |
| nssv16874320 | 0.016 | 273 | 16834 |
| nssv16888490 | 0.018 | 530 | 29246 |