nsv4718592
- 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:1
- Description:nsv4326333 from gnomAD Structural Variants. 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 17 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 17 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4718592 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 56,893,223 | 56,893,223 |
nsv4718592 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 54,970,584 | 54,970,584 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16220741 | insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16220741 | Remapped | Perfect | NC_000017.11:g.568 93223_56893224ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 56,893,223 | 56,893,223 |
nssv16220741 | Submitted genomic | NC_000017.10:g.549 70584_54970585ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 54,970,584 | 54,970,584 |
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) |
---|---|---|---|
nssv16220741 | 0.013 | 290 | 21686 |