nsv6302806
- 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:1,697
- Description:nsv5492664 from Byrska-Bishop et. al 2021. 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: 145 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6302806 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,445,552 | 144,447,247 |
| nsv6302806 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 495,008 | 496,704 |
| nsv6302806 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 144,142,645 | 144,144,340 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17653363 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17653363 | Remapped | Good | NW_018654715.1:g.4 95008_496704del | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 495,008 | 496,704 |
| nssv17653363 | Remapped | Perfect | NC_000007.14:g.144 445552_144447247de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,445,552 | 144,447,247 |
| nssv17653363 | Submitted genomic | NC_000007.13:g.144 142645_144144340de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 144,142,645 | 144,144,340 |
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) |
|---|---|---|---|
| nssv17653363 | 0.011 | 72 | 6276 |