nsv6127846
- 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:105
- Description:nsv5548859 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: 307 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6127846 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,281,180 | 48,281,284 |
nsv6127846 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,140,615 | 48,140,719 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17966295 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17966295 | Remapped | Perfect | NC_000023.11:g.482 81180_48281284ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,281,180 | 48,281,284 |
nssv17966295 | Submitted genomic | NC_000023.10:g.481 40615_48140719ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,140,615 | 48,140,719 |
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) |
---|---|---|---|
nssv17966295 | 0.13 | 675 | 5178 |