nsv4636247
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,327
- Description:esv3874316 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: 3079 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 3004 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4636247 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nsv4636247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16191157 | copy number gain | Curated | Curated |
| nssv16205883 | copy number gain | Curated | Curated |
| nssv16206361 | copy number gain | Curated | Curated |
| nssv16206403 | copy number gain | Curated | Curated |
| nssv16206451 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16191157 | Remapped | Good | NC_000015.10:g.206 41420_20661746dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nssv16205883 | Remapped | Good | NC_000015.10:g.206 41420_20661746dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nssv16206361 | Remapped | Good | NC_000015.10:g.206 41420_20661746dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nssv16206403 | Remapped | Good | NC_000015.10:g.206 41420_20661746dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nssv16206451 | Remapped | Good | NC_000015.10:g.206 41420_20661746dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,641,420 | 20,661,746 |
| nssv16191157 | Submitted genomic | NC_000015.9:g.2084 6721_20867075dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 | ||
| nssv16205883 | Submitted genomic | NC_000015.9:g.2084 6721_20867075dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 | ||
| nssv16206361 | Submitted genomic | NC_000015.9:g.2084 6721_20867075dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 | ||
| nssv16206403 | Submitted genomic | NC_000015.9:g.2084 6721_20867075dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 | ||
| nssv16206451 | Submitted genomic | NC_000015.9:g.2084 6721_20867075dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,846,721 | 20,867,075 |
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) |
|---|---|---|---|
| nssv16191157 | 0.155 | 777 | 5008 |
| nssv16205883 | 0.39 | 1952 | 5008 |
| nssv16206361 | 0.022 | 109 | 5008 |
| nssv16206403 | 0.101 | 506 | 5008 |
| nssv16206451 | 0.097 | 486 | 5008 |