nsv4644378
- 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:7,520
- Description:esv3872121 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: 539 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4644378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,685,852 | 18,693,371 |
| nsv4644378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,462,329 | 19,469,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16199549 | copy number loss | Curated | Curated |
| nssv16206096 | copy number gain | Curated | Curated |
| nssv16206248 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16199549 | Remapped | Perfect | NC_000014.9:g.1868 5852_18693371del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,685,852 | 18,693,371 |
| nssv16206096 | Remapped | Perfect | NC_000014.9:g.1868 5852_18693371dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,685,852 | 18,693,371 |
| nssv16206248 | Remapped | Perfect | NC_000014.9:g.1868 5852_18693371dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,685,852 | 18,693,371 |
| nssv16199549 | Submitted genomic | NC_000014.8:g.1946 2329_19469848del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,462,329 | 19,469,848 | ||
| nssv16206096 | Submitted genomic | NC_000014.8:g.1946 2329_19469848dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,462,329 | 19,469,848 | ||
| nssv16206248 | Submitted genomic | NC_000014.8:g.1946 2329_19469848dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,462,329 | 19,469,848 |
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) |
|---|---|---|---|
| nssv16199549 | 0.091 | 457 | 5008 |
| nssv16206096 | 0.014 | 72 | 5008 |
| nssv16206248 | 0.16 | 801 | 5008 |