nsv6131364
- 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:24
- Description:nsv5545611 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: 113 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6131364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 17,467,315 | 17,467,338 |
nsv6131364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 17,578,124 | 17,578,147 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17959084 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17959084 | Remapped | Perfect | NC_000019.10:g.174 67315_17467338ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 17,467,315 | 17,467,338 |
nssv17959084 | Submitted genomic | NC_000019.9:g.1757 8124_17578147ins? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 17,578,124 | 17,578,147 |
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) |
---|---|---|---|
nssv17959084 | 0.095 | 570 | 6016 |