nsv5393461
- 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:2,807
- Description:nsv5038917 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: 117 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5393461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 24,832,212 | 24,835,018 |
nsv5393461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 25,158,703 | 25,161,509 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16886199 | sva deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16886199 | Remapped | Perfect | NC_000001.11:g.248 32212_24835018del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 24,832,212 | 24,835,018 |
nssv16886199 | Submitted genomic | NC_000001.10:g.251 58703_25161509del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 25,158,703 | 25,161,509 |
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) |
---|---|---|---|
nssv16886199 | 0.929 | 27163 | 29246 |