nsv3917950
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,279,884
- Description:NCBI36/hg18 12p12.1-11.23(chr12:22220384-27436893)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: 13294 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 13294 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 3680 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3917950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 22,135,857 | 22,135,857 | 27,415,740 | 27,415,740 |
| nsv3917950 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 22,288,791 | 22,329,117 | 27,545,626 | 27,568,673 |
| nsv3917950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 22,180,058 | 22,220,384 | 27,436,893 | 27,459,940 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15125995 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000450794.2, VCV000399212.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15125995 | Remapped | Perfect | NC_000012.12:g.(22 135857_22135857)_( 27415740_27415740) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 22,135,857 | 22,135,857 | 27,415,740 | 27,415,740 |
| nssv15125995 | Remapped | Perfect | NC_000012.11:g.(22 288791_22329117)_( 27545626_27568673) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 22,288,791 | 22,329,117 | 27,545,626 | 27,568,673 |
| nssv15125995 | Submitted genomic | NC_000012.10:g.(22 180058_22220384)_( 27436893_27459940) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 22,180,058 | 22,220,384 | 27,436,893 | 27,459,940 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15125995 | NCBI36: NC_000012.10:g.(22180058_22220384)_(27436893_27459940)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000450794.2, VCV000399212.2 | 3 |