nsv4718353
- 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:1
- Description:nsv4508618 from gnomAD Structural Variants. 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 18 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4718353 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 124,881,731 | 124,881,731 |
nsv4718353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,751,627 | 124,751,627 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16217167 | alu insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16217167 | Remapped | Perfect | NC_000011.10:g.124 881731_124881732in s? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 124,881,731 | 124,881,731 |
nssv16217167 | Submitted genomic | NC_000011.9:g.1247 51627_124751628ins ? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,751,627 | 124,751,627 |
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) |
---|---|---|---|
nssv16217167 | 0.112 | 2421 | 21636 |