nsv5383941
- 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:333
- Description:nsv4899568 from Abel et. al 2020. 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: 120 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5383941 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 91,209,474 | 91,209,806 |
nsv5383941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 92,969,231 | 92,969,563 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16882248 | alu deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16882248 | Remapped | Perfect | NC_000010.11:g.912 09474_91209806del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 91,209,474 | 91,209,806 |
nssv16882248 | Submitted genomic | NC_000010.10:g.929 69231_92969563del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 92,969,231 | 92,969,563 |
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) |
---|---|---|---|
nssv16882248 | 0.899 | 26285 | 29246 |