nsv3911796
- 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:4,441,084
- Description:GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)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: 12817 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 12072 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 4166 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911796 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 45,710,242 | 50,151,325 |
| nsv3911796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,205,690 | 51,911,085 |
| nsv3911796 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 45,525,696 | 51,581,091 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147055 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052312.5, VCV000058543.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147055 | Submitted genomic | NC_000010.11:g.(?_ 45710242)_(5015132 5_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 45,710,242 | 50,151,325 |
| nssv15147055 | Submitted genomic | NC_000010.10:g.(?_ 46205690)_(5191108 5_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,205,690 | 51,911,085 |
| nssv15147055 | Submitted genomic | NC_000010.9:g.(?_4 5525696)_(51581091 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 45,525,696 | 51,581,091 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147055 | GRCh37: NC_000010.10:g.(?_46205690)_(51911085_?)del, GRCh38: NC_000010.11:g.(?_45710242)_(50151325_?)del, NCBI36: NC_000010.9:g.(?_45525696)_(51581091_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052312.5, VCV000058543.1 | 1 |