nsv4673384
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,258
- Description:esv3838857 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: 1512 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1512 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673384 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 757,561 | 778,818 |
| nsv4673384 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 757,676 | 778,933 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16196650 | copy number loss | Curated | Curated |
| nssv16205816 | copy number gain | Curated | Curated |
| nssv16205940 | copy number gain | Curated | Curated |
| nssv16206354 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16196650 | Remapped | Perfect | NC_000005.10:g.757 561_778818del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 757,561 | 778,818 |
| nssv16205816 | Remapped | Perfect | NC_000005.10:g.757 561_778818dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 757,561 | 778,818 |
| nssv16205940 | Remapped | Perfect | NC_000005.10:g.757 561_778818dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 757,561 | 778,818 |
| nssv16206354 | Remapped | Perfect | NC_000005.10:g.757 561_778818dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 757,561 | 778,818 |
| nssv16196650 | Submitted genomic | NC_000005.9:g.7576 76_778933del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 757,676 | 778,933 | ||
| nssv16205816 | Submitted genomic | NC_000005.9:g.7576 76_778933dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 757,676 | 778,933 | ||
| nssv16205940 | Submitted genomic | NC_000005.9:g.7576 76_778933dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 757,676 | 778,933 | ||
| nssv16206354 | Submitted genomic | NC_000005.9:g.7576 76_778933dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 757,676 | 778,933 |
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) |
|---|---|---|---|
| nssv16196650 | 0.026 | 128 | 5008 |
| nssv16205816 | 0.069 | 348 | 5008 |
| nssv16205940 | 0.034 | 168 | 5008 |
| nssv16206354 | 0.228 | 1141 | 5008 |