nsv6130884
- 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:30,580,354
- Description:nsv5539790 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: 90265 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 94288 SVs from 142 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6130884 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 12,965,809 | 43,546,162 |
nsv6130884 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,697,897 | 44,966,043 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17959909 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17959909 | Remapped | Pass | NC_000021.9:g.1296 5809_43546162ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 12,965,809 | 43,546,162 |
nssv17959909 | Submitted genomic | NC_000021.8:g.1069 7897_44966043ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,697,897 | 44,966,043 |
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) |
---|---|---|---|
nssv17959909 | 0.018 | 113 | 6244 |