nsv3872102
- 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:2,382,963
- Description:GRCh37/hg19 5q14.3(chr5:87764485-90147447)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: 4707 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4708 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872102 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 88,468,668 | 90,851,630 |
| nsv3872102 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 87,764,485 | 90,147,447 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142367 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511258.2, VCV000441749.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142367 | Remapped | Perfect | NC_000005.10:g.(?_ 88468668)_(9085163 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 88,468,668 | 90,851,630 |
| nssv15142367 | Submitted genomic | NC_000005.9:g.(?_8 7764485)_(90147447 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 87,764,485 | 90,147,447 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142367 | GRCh37: NC_000005.9:g.(?_87764485)_(90147447_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511258.2, VCV000441749.2 | 1 |