nsv6131127
- 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:27
- Description:nsv5535748 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: 127 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6131127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,110,322 | 86,110,348 |
| nsv6131127 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654720.1 | Chr12|NW_0 18654720.1 | 16,179 | 16,205 |
| nsv6131127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 86,504,100 | 86,504,126 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17966949 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17966949 | Remapped | Perfect | NW_018654720.1:g.1 6179_16205ins? | GRCh38.p12 | Second Pass | NW_018654720.1 | Chr12|NW_0 18654720.1 | 16,179 | 16,205 |
| nssv17966949 | Remapped | Perfect | NC_000012.12:g.861 10322_86110348ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,110,322 | 86,110,348 |
| nssv17966949 | Submitted genomic | NC_000012.11:g.865 04100_86504126ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 86,504,100 | 86,504,126 |
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) |
|---|---|---|---|
| nssv17966949 | 0.399 | 2552 | 6404 |