nsv6303952
- 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:147
- Description:nsv5480821 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: 157 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6303952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,393,196 | 144,393,342 |
| nsv6303952 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 442,657 | 442,803 |
| nsv6303952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 144,090,289 | 144,090,435 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17653361 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17653361 | Remapped | Perfect | NW_018654715.1:g.4 42657_442803dup | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 442,657 | 442,803 |
| nssv17653361 | Remapped | Perfect | NC_000007.14:g.144 393196_144393342du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,393,196 | 144,393,342 |
| nssv17653361 | Submitted genomic | NC_000007.13:g.144 090289_144090435du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 144,090,289 | 144,090,435 |
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) |
|---|---|---|---|
| nssv17653361 | 0.145 | 928 | 6404 |