nsv4455082
- 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:2,356,255
- Description:GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)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: 5797 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 5792 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455082 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 154,406,104 | 156,762,358 |
| nsv4455082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 153,785,664 | 156,189,369 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772444 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847656.2, VCV000686948.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772444 | Remapped | Good | NC_000005.10:g.(?_ 154406104)_(156762 358_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 154,406,104 | 156,762,358 |
| nssv15772444 | Submitted genomic | NC_000005.9:g.(?_1 53785664)_(1561893 69_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 153,785,664 | 156,189,369 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772444 | GRCh37: NC_000005.9:g.(?_153785664)_(156189369_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847656.2, VCV000686948.2 | 1 |