nsv3923420
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,651,650
- Description:GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 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: 5256 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5256 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 1077 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923420 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 28,531,783 | 30,183,432 |
| nsv3923420 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 28,543,104 | 30,194,753 |
| nsv3923420 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 28,450,605 | 30,102,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119976 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054253.6, VCV000060372.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119976 | Submitted genomic | NC_000016.10:g.(?_ 28531783)_(3018343 2_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 28,531,783 | 30,183,432 |
| nssv15119976 | Submitted genomic | NC_000016.9:g.(?_2 8543104)_(30194753 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 28,543,104 | 30,194,753 |
| nssv15119976 | Submitted genomic | NC_000016.8:g.(?_2 8450605)_(30102254 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,450,605 | 30,102,254 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119976 | GRCh37: NC_000016.9:g.(?_28543104)_(30194753_?)del, GRCh38: NC_000016.10:g.(?_28531783)_(30183432_?)del, NCBI36: NC_000016.8:g.(?_28450605)_(30102254_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054253.6, VCV000060372.1 | 1 |