nsv3896222
- 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:8,783
- Description:GRCh37/hg19 10q23.1(chr10:84127899-84136681)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: 260 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 57 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3896222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 82,368,143 | 82,376,925 |
nsv3896222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 84,127,899 | 84,136,681 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15158419 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737210.2, VCV000600574.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15158419 | Remapped | Perfect | NC_000010.11:g.(?_ 82368143)_(8237692 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,368,143 | 82,376,925 |
nssv15158419 | Submitted genomic | NC_000010.10:g.(?_ 84127899)_(8413668 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 84,127,899 | 84,136,681 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15158419 | GRCh37: NC_000010.10:g.(?_84127899)_(84136681_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000737210.2, VCV000600574.2 | 0 |