nsv6127156
- 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:1
- Description:nsv5550183 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: 89 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6127156 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 47,638,360 | 47,638,360 |
| nsv6127156 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 66,178 | 66,178 |
| nsv6127156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 47,659,912 | 47,659,912 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17657547 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17657547 | Remapped | Perfect | NW_019805496.1:g.6 6178_66179ins? | GRCh38.p12 | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 66,178 | 66,178 |
| nssv17657547 | Remapped | Perfect | NC_000011.10:g.476 38360_47638361ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 47,638,360 | 47,638,360 |
| nssv17657547 | Submitted genomic | NC_000011.9:g.4765 9912_47659913ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,659,912 | 47,659,912 |
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) |
|---|---|---|---|
| nssv17657547 | 0.318 | 2037 | 6404 |