nsv6308856
- 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:nsv5555564 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: 74 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 17 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6308856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 122,287,583 | 122,287,634 |
nsv6308856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 125,049,862 | 125,049,913 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17654684 | sva insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17654684 | Remapped | Perfect | NC_000009.12:g.122 287583_122287634in s? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 122,287,583 | 122,287,634 |
nssv17654684 | Submitted genomic | NC_000009.11:g.125 049862_125049913in s? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 125,049,862 | 125,049,913 |
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) |
---|---|---|---|
nssv17654684 | 0.039 | 247 | 6280 |