nsv3922077
- 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:3,351,660
- Description:GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)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: 11505 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 11506 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2542 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922077 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 119,286,893 | 122,638,552 |
| nsv3922077 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 119,724,698 | 123,123,099 |
| nsv3922077 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 118,209,081 | 121,689,052 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147016 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051981.6, VCV000058232.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147016 | Submitted genomic | NC_000012.12:g.(?_ 119286893)_(122638 552_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 119,286,893 | 122,638,552 |
| nssv15147016 | Submitted genomic | NC_000012.11:g.(?_ 119724698)_(123123 099_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 119,724,698 | 123,123,099 |
| nssv15147016 | Submitted genomic | NC_000012.10:g.(?_ 118209081)_(121689 052_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 118,209,081 | 121,689,052 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147016 | GRCh37: NC_000012.11:g.(?_119724698)_(123123099_?)dup, GRCh38: NC_000012.12:g.(?_119286893)_(122638552_?)dup, NCBI36: NC_000012.10:g.(?_118209081)_(121689052_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000051981.6, VCV000058232.1 | 3 |