nsv6293031
- 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:52
- Description:nsv5403127 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: 88 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6293031 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 47,731,138 | 47,731,189 |
| nsv6293031 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 163,505 | 163,556 |
| nsv6293031 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 47,752,690 | 47,752,741 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17655971 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17655971 | Remapped | Perfect | NW_019805496.1:g.1 63505_163556ins? | GRCh38.p12 | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 163,505 | 163,556 |
| nssv17655971 | Remapped | Perfect | NC_000011.10:g.477 31138_47731189ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 47,731,138 | 47,731,189 |
| nssv17655971 | Submitted genomic | NC_000011.9:g.4775 2690_47752741ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,752,690 | 47,752,741 |
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) |
|---|---|---|---|
| nssv17655971 | 0.023 | 145 | 6182 |