nsv6129949
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22
- Description:nsv5545675 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: 147 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6129949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 33,793,997 | 33,794,018 |
nsv6129949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 34,086,198 | 34,086,219 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17964071 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17964071 | Remapped | Perfect | NC_000015.10:g.337 93997_33794018ins? | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 33,793,997 | 33,794,018 |
nssv17964071 | Submitted genomic | NC_000015.9:g.3408 6198_34086219ins? | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,086,198 | 34,086,219 |
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) |
---|---|---|---|
nssv17964071 | 0.307 | 1740 | 5672 |