nsv3902226
- 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:25,570,777
- Description:GRCh38/hg38 1q41-44(chr1:223347693-248918469)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: 76461 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 76384 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 20467 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902226 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 223,347,693 | 248,918,469 |
| nsv3902226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 223,521,035 | 249,212,668 |
| nsv3902226 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 221,587,658 | 247,179,291 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146178 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050581.7, VCV000057010.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146178 | Submitted genomic | NC_000001.11:g.(?_ 223347693)_(248918 469_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 223,347,693 | 248,918,469 |
| nssv15146178 | Submitted genomic | NC_000001.10:g.(?_ 223521035)_(249212 668_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 223,521,035 | 249,212,668 |
| nssv15146178 | Submitted genomic | NC_000001.9:g.(?_2 21587658)_(2471792 91_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 221,587,658 | 247,179,291 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146178 | GRCh37: NC_000001.10:g.(?_223521035)_(249212668_?)dup, GRCh38: NC_000001.11:g.(?_223347693)_(248918469_?)dup, NCBI36: NC_000001.9:g.(?_221587658)_(247179291_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000050581.7, VCV000057010.1 | 3 |