nsv3912172
- 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:165,534
- Description:NCBI36/hg18 12q21.1(chr12:70035940-70148877)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: 505 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3912172 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 71,327,101 | 71,355,893 | 71,468,830 | 71,492,634 |
| nsv3912172 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 71,720,881 | 71,749,673 | 71,862,610 | 71,886,414 |
| nsv3912172 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 70,007,148 | 70,035,940 | 70,148,877 | 70,172,681 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15126152 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449741.2, VCV000398784.2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15126152 | Remapped | Perfect | NC_000012.12:g.(71 327101_71355893)_( 71468830_71492634) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 71,327,101 | 71,355,893 | 71,468,830 | 71,492,634 |
| nssv15126152 | Remapped | Perfect | NC_000012.11:g.(71 720881_71749673)_( 71862610_71886414) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 71,720,881 | 71,749,673 | 71,862,610 | 71,886,414 |
| nssv15126152 | Submitted genomic | NC_000012.10:g.(70 007148_70035940)_( 70148877_70172681) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 70,007,148 | 70,035,940 | 70,148,877 | 70,172,681 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15126152 | NCBI36: NC_000012.10:g.(70007148_70035940)_(70148877_70172681)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000449741.2, VCV000398784.2 | 3 |