nsv5393574
- 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:6,110
- Description:nsv5032487 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: 202 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5393574 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 90,675,647 | 90,681,756 |
nsv5393574 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 91,596,798 | 91,602,907 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16873748 | line1 deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16873748 | Remapped | Perfect | NC_000004.12:g.906 75647_90681756del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,675,647 | 90,681,756 |
nssv16873748 | Submitted genomic | NC_000004.11:g.915 96798_91602907del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 91,596,798 | 91,602,907 |
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) |
---|---|---|---|
nssv16873748 | 0.884 | 25839 | 29216 |