nsv6308275
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,289
- Description:nsv6147208 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: 67 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6308275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 190,106,436 | 190,112,724 |
nsv6308275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 191,027,591 | 191,033,879 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17668335 | mobile element deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17668335 | Remapped | Perfect | NC_000004.12:g.190 106436_190112724de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 190,106,436 | 190,112,724 |
nssv17668335 | Submitted genomic | NC_000004.11:g.191 027591_191033879de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 191,027,591 | 191,033,879 |
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) |
---|---|---|---|
nssv17668335 | 0.186 | 1188 | 6404 |