nsv3919135
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,793,427
- Description:NCBI36/hg18 10p15.3-14(chr10:1-6889456)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: 27435 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 27374 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 6706 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3919135 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 14,062 | 6,807,488 |
| nsv3919135 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 60,001 | 6,849,450 |
| nsv3919135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 1 | 6,889,456 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150590 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV000509234.1, VCV000441162.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150590 | Remapped | Good | NC_000010.11:g.(?_ 14062)_(6807488_?) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 14,062 | 6,807,488 |
| nssv15150590 | Remapped | Good | NC_000010.10:g.(?_ 60001)_(6849450_?) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 60,001 | 6,849,450 |
| nssv15150590 | Submitted genomic | NC_000010.9:g.(?_1 )_(6889456_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 1 | 6,889,456 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150590 | NCBI36: NC_000010.9:g.(?_1)_(6889456_?)del | copy number loss | unknown | not provided | not provided | ClinVar | RCV000509234.1, VCV000441162.1 | 1 |