nsv4676113
- 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:1,086,081
- Description:GRCh37/hg19 18q12.2(chr18:34829775-35915856)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: 2410 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2411 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676113 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 37,249,812 | 38,335,892 |
| nsv4676113 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 34,829,775 | 35,915,856 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207362 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006968.1, VCV000816002.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207362 | Remapped | Perfect | NC_000018.10:g.(?_ 37249812)_(3833589 2_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 37,249,812 | 38,335,892 |
| nssv16207362 | Submitted genomic | NC_000018.9:g.(?_3 4829775)_(35915856 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 34,829,775 | 35,915,856 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207362 | GRCh37: NC_000018.9:g.(?_34829775)_(35915856_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006968.1, VCV000816002.1 | 3 |