nsv6291810
- 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:238,134
- Description:GRCh37/hg19 17q12(chr17:35580576-35818709)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: 939 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 813 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1058 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291810 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 37,223,655 | 37,458,607 |
| nsv6291810 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,459,641 | 1,697,774 |
| nsv6291810 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 35,580,576 | 35,818,709 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956694 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827872.1, VCV001340575.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956694 | Remapped | Perfect | NT_187614.1:g.(?_1 459641)_(1697774_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,459,641 | 1,697,774 |
| nssv17956694 | Remapped | Good | NC_000017.11:g.(?_ 37223655)_(3745860 7_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 37,223,655 | 37,458,607 |
| nssv17956694 | Submitted genomic | NC_000017.10:g.(?_ 35580576)_(3581870 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 35,580,576 | 35,818,709 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956694 | GRCh37: NC_000017.10:g.(?_35580576)_(35818709_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827872.1, VCV001340575.1 | 3 |