nsv4652540
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,251
- Description:nsv4249769 from gnomAD Structural Variants. 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: 524 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 524 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4652540 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 32,304,299 | 32,338,549 |
| nsv4652540 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 4,477,543 | 4,501,706 |
| nsv4652540 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,596,500 | 32,630,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16162894 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16162894 | Remapped | Pass | NW_011332701.1:g.4 477543_4501706del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 4,477,543 | 4,501,706 |
| nssv16162894 | Remapped | Perfect | NC_000015.10:g.323 04299_32338549del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 32,304,299 | 32,338,549 |
| nssv16162894 | Submitted genomic | NC_000015.9:g.3259 6500_32630750del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,596,500 | 32,630,750 |
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) |
|---|---|---|---|
| nssv16162894 | 0.065 | 1236 | 18942 |