nsv4643269
- 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:126,101
- Description:nsv4051984 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: 657 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 657 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4643269 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,743,907 | 143,870,007 |
| nsv4643269 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 288,227 | 414,232 |
| nsv4643269 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,441,000 | 143,567,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16167860 | copy number variation | Curated | Curated |
| nssv16168073 | copy number variation | Curated | Curated |
| nssv16176365 | copy number variation | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16167860 | Remapped | Good | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 288,227 | 414,232 |
| nssv16168073 | Remapped | Good | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 288,227 | 414,232 |
| nssv16176365 | Remapped | Good | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 288,227 | 414,232 |
| nssv16167860 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,743,907 | 143,870,007 |
| nssv16168073 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,743,907 | 143,870,007 |
| nssv16176365 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,743,907 | 143,870,007 |
| nssv16167860 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,441,000 | 143,567,100 | ||
| nssv16168073 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,441,000 | 143,567,100 | ||
| nssv16176365 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,441,000 | 143,567,100 |
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) |
|---|---|---|---|
| nssv16167860 | 0.651 | 7057 | 10847 |
| nssv16168073 | 0.284 | 3078 | 10847 |
| nssv16176365 | 0.057 | 622 | 10847 |