nsv3914997
- 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:27,589,015
- Description:GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)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: 94464 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 94497 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 24680 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914997 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 22,149 | 27,611,163 |
| nsv3914997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 22,149 | 27,611,270 |
| nsv3914997 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 75,149 | 27,647,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148985 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142934.5, VCV000154867.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148985 | Submitted genomic | NC_000005.10:g.(?_ 22149)_(27611163_? )del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 22,149 | 27,611,163 |
| nssv15148985 | Submitted genomic | NC_000005.9:g.(?_2 2149)_(27611270_?) del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 22,149 | 27,611,270 |
| nssv15148985 | Submitted genomic | NC_000005.8:g.(?_7 5149)_(27647027_?) del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 75,149 | 27,647,027 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148985 | GRCh37: NC_000005.9:g.(?_22149)_(27611270_?)del, GRCh38: NC_000005.10:g.(?_22149)_(27611163_?)del, NCBI36: NC_000005.8:g.(?_75149)_(27647027_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142934.5, VCV000154867.2 | 1 |