nsv6127427
- 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:nsv5541349 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: 187 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6127427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,214,735 | 2,214,735 |
| nsv6127427 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 556,879 | 556,879 |
| nsv6127427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,323,901 | 2,323,901 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17659249 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17659249 | Remapped | Perfect | NW_018654718.1:g.5 56879_556880ins? | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 556,879 | 556,879 |
| nssv17659249 | Remapped | Perfect | NC_000012.12:g.221 4735_2214736ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,214,735 | 2,214,735 |
| nssv17659249 | Submitted genomic | NC_000012.11:g.232 3901_2323902ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,323,901 | 2,323,901 |
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) |
|---|---|---|---|
| nssv17659249 | 0.109 | 696 | 6404 |