nsv3916821
- 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:39,082,335
- Description:NCBI36/hg18 2p16.3-11.2(chr2:47701031-86783356)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: 96641 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 96643 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 24784 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3916821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,620,388 | 86,702,722 |
| nsv3916821 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 47,847,527 | 86,929,845 |
| nsv3916821 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 47,701,031 | 86,783,356 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143557 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511402.2, VCV000443790.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143557 | Remapped | Perfect | NC_000002.12:g.(?_ 47620388)_(8670272 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,620,388 | 86,702,722 |
| nssv15143557 | Remapped | Perfect | NC_000002.11:g.(?_ 47847527)_(8692984 5_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 47,847,527 | 86,929,845 |
| nssv15143557 | Submitted genomic | NC_000002.10:g.(?_ 47701031)_(8678335 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 47,701,031 | 86,783,356 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143557 | NCBI36: NC_000002.10:g.(?_47701031)_(86783356_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511402.2, VCV000443790.2 | 3 |