nsv4456071
- 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:13,030,440
- Description:GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)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: 33831 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 33835 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 108,969,105 | 121,999,544 |
| nsv4456071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 108,304,806 | 121,335,239 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774688 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846246.2, VCV000685538.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774688 | Remapped | Perfect | NC_000005.10:g.(?_ 108969105)_(121999 544_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 108,969,105 | 121,999,544 |
| nssv15774688 | Submitted genomic | NC_000005.9:g.(?_1 08304806)_(1213352 39_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 108,304,806 | 121,335,239 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774688 | GRCh37: NC_000005.9:g.(?_108304806)_(121335239_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846246.2, VCV000685538.2 | 1 |