nsv3907034
- 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:701,405
- Description:GRCh37/hg19 19p13.2(chr19:8905057-9606461)x1 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: 3005 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3002 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907034 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 8,794,381 | 9,495,785 |
| nsv3907034 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 8,905,057 | 9,606,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15160043 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000740030.2, VCV000603394.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15160043 | Remapped | Perfect | NC_000019.10:g.(?_ 8794381)_(9495785_ ?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 8,794,381 | 9,495,785 |
| nssv15160043 | Submitted genomic | NC_000019.9:g.(?_8 905057)_(9606461_? )del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 8,905,057 | 9,606,461 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15160043 | GRCh37: NC_000019.9:g.(?_8905057)_(9606461_?)del | copy number loss | unknown | not provided | Likely benign | ClinVar | RCV000740030.2, VCV000603394.2 | 1 |