nsv3923639
- 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:6,420,508
- Description:GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)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: 15064 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 15068 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 3681 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 |
|---|---|---|---|---|---|---|---|
| nsv3923639 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 106,586,078 | 113,006,585 |
| nsv3923639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 105,921,779 | 112,342,282 |
| nsv3923639 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 105,949,678 | 112,370,181 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138296 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142171.4, VCV000153994.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138296 | Submitted genomic | NC_000005.10:g.(?_ 106586078)_(113006 585_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 106,586,078 | 113,006,585 |
| nssv15138296 | Submitted genomic | NC_000005.9:g.(?_1 05921779)_(1123422 82_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 105,921,779 | 112,342,282 |
| nssv15138296 | Submitted genomic | NC_000005.8:g.(?_1 05949678)_(1123701 81_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 105,949,678 | 112,370,181 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138296 | GRCh37: NC_000005.9:g.(?_105921779)_(112342282_?)del, GRCh38: NC_000005.10:g.(?_106586078)_(113006585_?)del, NCBI36: NC_000005.8:g.(?_105949678)_(112370181_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142171.4, VCV000153994.2 | 1 |