nsv4675016
- 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:15,217,295
- Description:GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 43403 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 43419 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 57,857,901 | 73,075,195 |
| nsv4675016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 58,432,035 | 73,649,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207619 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001007405.1, VCV000816480.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207619 | Remapped | Perfect | NC_000013.11:g.(?_ 57857901)_(7307519 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,857,901 | 73,075,195 |
| nssv16207619 | Submitted genomic | NC_000013.10:g.(?_ 58432035)_(7364933 3_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 58,432,035 | 73,649,333 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207619 | GRCh37: NC_000013.10:g.(?_58432035)_(73649333_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001007405.1, VCV000816480.1 | 3 |