nsv3912666
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:223,019
- Description:GRCh38/hg38 10q21.3(chr10:66535354-66758372)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: 2037 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2037 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 457 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912666 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 66,535,354 | 66,758,372 |
| nsv3912666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,295,112 | 68,518,130 |
| nsv3912666 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 67,965,118 | 68,188,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139439 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000141981.4, VCV000153680.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139439 | Submitted genomic | NC_000010.11:g.(?_ 66535354)_(6675837 2_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 66,535,354 | 66,758,372 |
| nssv15139439 | Submitted genomic | NC_000010.10:g.(?_ 68295112)_(6851813 0_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,295,112 | 68,518,130 |
| nssv15139439 | Submitted genomic | NC_000010.9:g.(?_6 7965118)_(68188136 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 67,965,118 | 68,188,136 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139439 | GRCh37: NC_000010.10:g.(?_68295112)_(68518130_?)del, GRCh38: NC_000010.11:g.(?_66535354)_(66758372_?)del, NCBI36: NC_000010.9:g.(?_67965118)_(68188136_?)del | copy number loss | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000141981.4, VCV000153680.2 | 1 |