nsv3911879
- 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:38,903,559
- Description:GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)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: 113468 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 105876 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 29691 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 |
|---|---|---|---|---|---|---|---|
| nsv3911879 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,749,532 | 46,653,090 |
| nsv3911879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,539,679 | 48,073,002 |
| nsv3911879 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 13,461,550 | 46,897,430 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146446 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053040.7, VCV000059222.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146446 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46653090_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,653,090 |
| nssv15146446 | Submitted genomic | NC_000021.8:g.(?_1 4539679)_(48073002 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,539,679 | 48,073,002 |
| nssv15146446 | Submitted genomic | NC_000021.7:g.(?_1 3461550)_(46897430 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,461,550 | 46,897,430 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146446 | GRCh37: NC_000021.8:g.(?_14539679)_(48073002_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46653090_?)dup, NCBI36: NC_000021.7:g.(?_13461550)_(46897430_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053040.7, VCV000059222.2 | 3 |