nsv6313755
- 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:2,244,301
- Description:GRCh37/hg19 5q35.3(chr5:177954576-180198875) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9510 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 9510 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 178,527,575 | 180,771,875 |
| nsv6313755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 177,954,576 | 180,198,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970067 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053539.3, VCV001527207.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970067 | Remapped | Perfect | NC_000005.10:g.(?_ 178527575)_(180771 875_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 178,527,575 | 180,771,875 |
| nssv17970067 | Submitted genomic | NC_000005.9:g.(?_1 77954576)_(1801988 75_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 177,954,576 | 180,198,875 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970067 | GRCh37: NC_000005.9:g.(?_177954576)_(180198875_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053539.3, VCV001527207.3 |