nsv6114257
- 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:59
- Description:nsv5422165 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: 107 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6114257 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 123,872,652 | 123,872,710 |
| nsv6114257 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187590.1 | Chr12|NT_1 87590.1 | 46,144 | 46,202 |
| nsv6114257 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 124,357,199 | 124,357,257 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17965994 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17965994 | Remapped | Perfect | NT_187590.1:g.4614 4_46202ins? | GRCh38.p12 | Second Pass | NT_187590.1 | Chr12|NT_1 87590.1 | 46,144 | 46,202 |
| nssv17965994 | Remapped | Perfect | NC_000012.12:g.123 872652_123872710in s? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 123,872,652 | 123,872,710 |
| nssv17965994 | Submitted genomic | NC_000012.11:g.124 357199_124357257in s? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 124,357,199 | 124,357,257 |
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) |
|---|---|---|---|
| nssv17965994 | 0.017 | 111 | 6404 |