nsv5393615
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,610
- Description:nsv5036203 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: 262 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 65 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5393615 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 100,740,292 | 100,742,901 |
nsv5393615 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,337,915 | 100,340,524 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16871913 | sva deletion | Curated | Curated |
nssv16888621 | sva deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16871913 | Remapped | Perfect | NC_000007.14:g.100 740292_100742901de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,740,292 | 100,742,901 |
nssv16888621 | Remapped | Perfect | NC_000007.14:g.100 740292_100742901de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,740,292 | 100,742,901 |
nssv16871913 | Submitted genomic | NC_000007.13:g.100 337915_100340524de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,337,915 | 100,340,524 | ||
nssv16888621 | Submitted genomic | NC_000007.13:g.100 337915_100340524de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,337,915 | 100,340,524 |
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) |
---|---|---|---|
nssv16871913 | 0.055 | 890 | 16092 |
nssv16888621 | 0.057 | 1599 | 28018 |