nsv4455909
- 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:1,725,119
- Description:GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1 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: 5480 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5480 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455909 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 28,455,409 | 30,180,527 |
| nsv4455909 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 28,466,730 | 30,191,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774753 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846340.2, VCV000685632.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774753 | Remapped | Perfect | NC_000016.10:g.(?_ 28455409)_(3018052 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,455,409 | 30,180,527 |
| nssv15774753 | Submitted genomic | NC_000016.9:g.(?_2 8466730)_(30191848 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,466,730 | 30,191,848 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774753 | GRCh37: NC_000016.9:g.(?_28466730)_(30191848_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846340.2, VCV000685632.2 | 1 |