nsv7093712
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,883
- Description:NC_000010.10:g.(?_17636184)_(17646066_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 71 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7093712 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 17,594,185 | 17,604,067 |
nsv7093712 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 17,636,184 | 17,646,066 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18790856 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003116711.2, VCV002425916.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18790856 | Remapped | Perfect | NC_000010.11:g.(?_ 17594185)_(1760406 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 17,594,185 | 17,604,067 |
nssv18790856 | Submitted genomic | NC_000010.10:g.(?_ 17636184)_(1764606 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 17,636,184 | 17,646,066 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18790856 | GRCh37: NC_000010.10:g.(?_17636184)_(17646066_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003116711.2, VCV002425916.2 |