nsv6117177
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Description:nsv5404206 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: 184 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6117177 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 17,650,665 | 17,650,716 |
nsv6117177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 17,650,896 | 17,650,947 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17668881 | alu insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17668881 | Remapped | Perfect | NC_000006.12:g.176 50665_17650716ins? | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 17,650,665 | 17,650,716 |
nssv17668881 | Submitted genomic | NC_000006.11:g.176 50896_17650947ins? | GRCh37 (hg19) | NC_000006.11 | Chr6 | 17,650,896 | 17,650,947 |
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) |
---|---|---|---|
nssv17668881 | 0.569 | 3640 | 6404 |