nsv3900429
- 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:19,571,719
- Description:GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2 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: 14122 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 14173 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 2295 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900429 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 2,786,811 | 22,358,529 |
| nsv3900429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,654,852 | 24,504,676 |
| nsv3900429 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 2,714,852 | 22,914,064 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132309 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050942.4, VCV000057270.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132309 | Submitted genomic | NC_000024.10:g.(?_ 2786811)_(22358529 _?)dup | GRCh38 (hg38) | NC_000024.10 | ChrY | 2,786,811 | 22,358,529 |
| nssv15132309 | Submitted genomic | NC_000024.9:g.(?_2 654852)_(24504676_ ?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,654,852 | 24,504,676 |
| nssv15132309 | Submitted genomic | NC_000024.8:g.(?_2 714852)_(22914064_ ?)dup | NCBI36 (hg18) | NC_000024.8 | ChrY | 2,714,852 | 22,914,064 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132309 | GRCh37: NC_000024.9:g.(?_2654852)_(24504676_?)dup, GRCh38: NC_000024.10:g.(?_2786811)_(22358529_?)dup, NCBI36: NC_000024.8:g.(?_2714852)_(22914064_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050942.4, VCV000057270.1 | 2 |