nsv6130335
- 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:88
- Description:nsv5537440 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: 435 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6130335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,173,261 | 30,173,348 |
| nsv6130335 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,458,209 | 2,458,296 |
| nsv6130335 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,345,725 | 2,345,812 |
| nsv6130335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 30,465,464 | 30,465,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17964041 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17964041 | Remapped | Perfect | NT_187660.1:g.2458 209_2458296ins? | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,458,209 | 2,458,296 |
| nssv17964041 | Remapped | Perfect | NW_011332701.1:g.2 345725_2345812ins? | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,345,725 | 2,345,812 |
| nssv17964041 | Remapped | Perfect | NC_000015.10:g.301 73261_30173348ins? | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,173,261 | 30,173,348 |
| nssv17964041 | Submitted genomic | NC_000015.9:g.3046 5464_30465551ins? | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,465,464 | 30,465,551 |
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) |
|---|---|---|---|
| nssv17964041 | 0.012 | 78 | 6380 |