nsv3886151
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:14,823,831
- Description:GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)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: 35400 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 35395 SVs from 126 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886151 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 155,506,614 | 170,330,444 |
| nsv3886151 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 154,886,174 | 169,757,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123550 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240059.2, VCV000253504.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15123550 | Remapped | Good | NC_000005.10:g.(?_ 155506614)_(170330 444_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,506,614 | 170,330,444 |
| nssv15123550 | Submitted genomic | NC_000005.9:g.(?_1 54886174)_(1697574 48_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 154,886,174 | 169,757,448 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15123550 | GRCh37: NC_000005.9:g.(?_154886174)_(169757448_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240059.2, VCV000253504.2 | 1 |