nsv3917165
- 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:5,233,298
- Description:NCBI36/hg18 10p15.3-15.1(chr10:62842-5265989)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 22063 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 22001 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 5119 SVs from 32 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3917165 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 26,906 | 5,260,203 | 5,260,203 |
| nsv3917165 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 72,842 | 5,275,989 | 5,302,166 |
| nsv3917165 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 62,842 | 5,265,989 | 5,292,166 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15127696 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000453821.2, VCV000398676.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15127696 | Remapped | Good | NC_000010.11:g.(?_ 26906)_(5260203_52 60203)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,906 | 5,260,203 | 5,260,203 |
| nssv15127696 | Remapped | Perfect | NC_000010.10:g.(?_ 72842)_(5275989_53 02166)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 72,842 | 5,275,989 | 5,302,166 |
| nssv15127696 | Submitted genomic | NC_000010.9:g.(?_6 2842)_(5265989_529 2166)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 62,842 | 5,265,989 | 5,292,166 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15127696 | NCBI36: NC_000010.9:g.(?_62842)_(5265989_5292166)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000453821.2, VCV000398676.2 | 1 |