nsv3922438
- 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:242,594
- Description:GRCh38/hg38 12q24.23(chr12:119364009-119606602)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: 738 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 738 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922438 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 119,364,009 | 119,606,602 |
| nsv3922438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 119,801,814 | 120,044,407 |
| nsv3922438 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 118,286,197 | 118,528,790 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136553 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139277.5, VCV000150421.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136553 | Submitted genomic | NC_000012.12:g.(?_ 119364009)_(119606 602_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 119,364,009 | 119,606,602 |
| nssv15136553 | Submitted genomic | NC_000012.11:g.(?_ 119801814)_(120044 407_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 119,801,814 | 120,044,407 |
| nssv15136553 | Submitted genomic | NC_000012.10:g.(?_ 118286197)_(118528 790_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 118,286,197 | 118,528,790 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136553 | GRCh37: NC_000012.11:g.(?_119801814)_(120044407_?)dup, GRCh38: NC_000012.12:g.(?_119364009)_(119606602_?)dup, NCBI36: NC_000012.10:g.(?_118286197)_(118528790_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000139277.5, VCV000150421.2 | 3 |