nsv4675563
- 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:910,582
- Description:GRCh37/hg19 6q21(chr6:106638006-107421916)x3 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: 2854 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2705 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675563 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 106,190,131 | 107,100,712 |
| nsv4675563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 106,638,006 | 107,421,916 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208743 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007555.1, VCV000816618.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208743 | Remapped | Pass | NC_000006.12:g.(?_ 106190131)_(107100 712_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 106,190,131 | 107,100,712 |
| nssv16208743 | Submitted genomic | NC_000006.11:g.(?_ 106638006)_(107421 916_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 106,638,006 | 107,421,916 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208743 | GRCh37: NC_000006.11:g.(?_106638006)_(107421916_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007555.1, VCV000816618.1 | 3 |