nsv3890268
- 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:9,663,966
- Description:GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)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: 24519 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 24520 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,999,619 | 60,663,584 |
| nsv3890268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 49,076,980 | 58,740,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149031 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000448805.3, VCV000394158.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149031 | Remapped | Perfect | NC_000017.11:g.(?_ 50999619)_(6066358 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,999,619 | 60,663,584 |
| nssv15149031 | Submitted genomic | NC_000017.10:g.(?_ 49076980)_(5874094 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 49,076,980 | 58,740,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149031 | GRCh37: NC_000017.10:g.(?_49076980)_(58740945_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000448805.3, VCV000394158.3 | 3 |