nsv6130009
- 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:36
- Description:nsv5557200 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: 115 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6130009 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,361,525 | 28,361,560 |
| nsv6130009 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 160,890 | 160,925 |
| nsv6130009 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,688,036 | 28,688,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17660668 | sva insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17660668 | Remapped | Perfect | NW_018654706.1:g.1 60890_160925ins? | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 160,890 | 160,925 |
| nssv17660668 | Remapped | Perfect | NC_000001.11:g.283 61525_28361560ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,361,525 | 28,361,560 |
| nssv17660668 | Submitted genomic | NC_000001.10:g.286 88036_28688071ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,688,036 | 28,688,071 |
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) |
|---|---|---|---|
| nssv17660668 | 0.01 | 66 | 6372 |