nsv3923267
- 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:13,283,075
- Description:GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)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: 52643 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 52651 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 13803 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923267 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 43,732 | 13,326,806 |
| nsv3923267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 93,732 | 13,420,663 |
| nsv3923267 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 33,732 | 13,328,164 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147425 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139166.5, VCV000150284.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147425 | Submitted genomic | NC_000016.10:g.(?_ 43732)_(13326806_? )dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 43,732 | 13,326,806 |
| nssv15147425 | Submitted genomic | NC_000016.9:g.(?_9 3732)_(13420663_?) dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 93,732 | 13,420,663 |
| nssv15147425 | Submitted genomic | NC_000016.8:g.(?_3 3732)_(13328164_?) dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 33,732 | 13,328,164 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147425 | GRCh37: NC_000016.9:g.(?_93732)_(13420663_?)dup, GRCh38: NC_000016.10:g.(?_43732)_(13326806_?)dup, NCBI36: NC_000016.8:g.(?_33732)_(13328164_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139166.5, VCV000150284.2 | 3 |