nsv4455632
- 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:1,634,543
- Description:GRCh37/hg19 5q23.1-23.2(chr5:120785278-122419820)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4118 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 4118 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455632 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 121,449,583 | 123,084,125 |
| nsv4455632 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 120,785,278 | 122,419,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774660 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846205.2, VCV000685497.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774660 | Remapped | Perfect | NC_000005.10:g.(?_ 121449583)_(123084 125_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,449,583 | 123,084,125 |
| nssv15774660 | Submitted genomic | NC_000005.9:g.(?_1 20785278)_(1224198 20_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,785,278 | 122,419,820 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774660 | GRCh37: NC_000005.9:g.(?_120785278)_(122419820_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846205.2, VCV000685497.2 | 1 |