nsv3899943
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:109,757
- Description:GRCh37/hg19 12p13.33(chr12:2564298-2674054)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: 394 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899943 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,455,132 | 2,564,888 |
| nsv3899943 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 803,248 | 913,004 |
| nsv3899943 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,564,298 | 2,674,054 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151217 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000512035.2, VCV000442626.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151217 | Remapped | Perfect | NW_018654718.1:g.( ?_803248)_(913004_ ?)dup | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 803,248 | 913,004 |
| nssv15151217 | Remapped | Perfect | NC_000012.12:g.(?_ 2455132)_(2564888_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,455,132 | 2,564,888 |
| nssv15151217 | Submitted genomic | NC_000012.11:g.(?_ 2564298)_(2674054_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,564,298 | 2,674,054 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151217 | GRCh37: NC_000012.11:g.(?_2564298)_(2674054_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000512035.2, VCV000442626.2 | 3 |