nsv3910663
- 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:18,508,924
- Description:GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)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: 49261 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 49224 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 13392 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910663 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 91,086,659 | 109,595,582 |
| nsv3910663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 90,819,827 | 109,466,308 |
| nsv3910663 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 90,459,475 | 108,971,518 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147396 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138038.4, VCV000148976.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147396 | Submitted genomic | NC_000011.10:g.(?_ 91086659)_(1095955 82_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 91,086,659 | 109,595,582 |
| nssv15147396 | Submitted genomic | NC_000011.9:g.(?_9 0819827)_(10946630 8_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 90,819,827 | 109,466,308 |
| nssv15147396 | Submitted genomic | NC_000011.8:g.(?_9 0459475)_(10897151 8_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 90,459,475 | 108,971,518 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147396 | GRCh37: NC_000011.9:g.(?_90819827)_(109466308_?)del, GRCh38: NC_000011.10:g.(?_91086659)_(109595582_?)del, NCBI36: NC_000011.8:g.(?_90459475)_(108971518_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138038.4, VCV000148976.2 | 1 |