nsv6130532
- 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:37
- Description:nsv5540615 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: 99 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6130532 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 56,343,342 | 56,343,378 |
nsv6130532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 56,377,254 | 56,377,290 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17967851 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17967851 | Remapped | Perfect | NC_000016.10:g.563 43342_56343378ins? | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 56,343,342 | 56,343,378 |
nssv17967851 | Submitted genomic | NC_000016.9:g.5637 7254_56377290ins? | GRCh37 (hg19) | NC_000016.9 | Chr16 | 56,377,254 | 56,377,290 |
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) |
---|---|---|---|
nssv17967851 | 0.013 | 83 | 6402 |