nsv3890958
- 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:64,119
- Description:GRCh37/hg19 16q22.1(chr16:66975093-67039211)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: 210 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890958 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 66,941,190 | 67,005,308 |
| nsv3890958 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 66,975,093 | 67,039,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141521 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000448560.3, VCV000393763.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141521 | Remapped | Perfect | NC_000016.10:g.(?_ 66941190)_(6700530 8_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,941,190 | 67,005,308 |
| nssv15141521 | Submitted genomic | NC_000016.9:g.(?_6 6975093)_(67039211 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 66,975,093 | 67,039,211 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141521 | GRCh37: NC_000016.9:g.(?_66975093)_(67039211_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000448560.3, VCV000393763.3 | 3 |