nsv4654530
- 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:14,259
- Description:esv3884154 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 485 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4654530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 51,631,582 | 51,645,840 |
| nsv4654530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 52,134,835 | 52,149,093 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16185509 | copy number loss | Curated | Curated |
| nssv16206285 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16185509 | Remapped | Perfect | NC_000019.10:g.516 31582_51645840del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 51,631,582 | 51,645,840 |
| nssv16206285 | Remapped | Perfect | NC_000019.10:g.516 31582_51645840dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 51,631,582 | 51,645,840 |
| nssv16185509 | Submitted genomic | NC_000019.9:g.5213 4835_52149093del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 52,134,835 | 52,149,093 | ||
| nssv16206285 | Submitted genomic | NC_000019.9:g.5213 4835_52149093dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 52,134,835 | 52,149,093 |
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) |
|---|---|---|---|
| nssv16185509 | 0.332 | 1664 | 5008 |
| nssv16206285 | 0.037 | 183 | 5008 |