nsv3902340
- 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:55,817
- Description:GRCh37/hg19 10p12.2(chr10:23580058-23635874)x0 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: 228 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 228 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 | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3902340 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 23,291,129 | 23,346,945 |
nsv3902340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 23,580,058 | 23,635,874 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15157703 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737040.2, VCV000600404.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15157703 | Remapped | Perfect | NC_000010.11:g.(?_ 23291129)_(2334694 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 23,291,129 | 23,346,945 |
nssv15157703 | Submitted genomic | NC_000010.10:g.(?_ 23580058)_(2363587 4_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 23,580,058 | 23,635,874 |
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 | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15157703 | GRCh37: NC_000010.10:g.(?_23580058)_(23635874_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000737040.2, VCV000600404.2 | 0 |