nsv3921828
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:38,920,909
- Description:GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 AND See cases
- ClinVar: RCV000134119.5
- ClinVar: RCV000134842.5
- ClinVar: VCV000144677.2
- ClinVar: VCV000145474.2
- dbVar: nssv1601764
- dbVar: nssv1602140
- dbVar: nssv1602182
- dbVar: nssv1602325
- dbVar: nssv1603808
- dbVar: nssv1603940
- dbVar: nssv1604478
- dbVar: nssv1604997
- dbVar: nssv576235
- dbVar: nssv584210
- dbVar: nssv584255
- dbVar: nsv492198
- dbVar: nsv497940
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 113525 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 102891 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 28842 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 |
|---|---|---|---|---|---|---|---|
| nsv3921828 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,749,532 | 46,670,440 |
| nsv3921828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,513,244 | 48,090,352 |
| nsv3921828 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 14,435,115 | 46,914,780 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146648 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134842.5, VCV000145474.2 | 3 |
| nssv15147989 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134119.5, VCV000144677.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146648 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670440_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,440 |
| nssv15147989 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670440_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,440 |
| nssv15147989 | Submitted genomic | NC_000021.8:g.(?_1 5485038)_(48090352 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,485,038 | 48,090,352 |
| nssv15146648 | Submitted genomic | NC_000021.8:g.(?_1 5513244)_(48090352 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,513,244 | 48,090,352 |
| nssv15147989 | Submitted genomic | NC_000021.7:g.(?_1 4406909)_(46914780 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,406,909 | 46,914,780 |
| nssv15146648 | Submitted genomic | NC_000021.7:g.(?_1 4435115)_(46914780 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,435,115 | 46,914,780 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146648 | GRCh37: NC_000021.8:g.(?_15513244)_(48090352_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670440_?)dup, NCBI36: NC_000021.7:g.(?_14435115)_(46914780_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134842.5, VCV000145474.2 | 3 |
| nssv15147989 | GRCh37: NC_000021.8:g.(?_15485038)_(48090352_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670440_?)dup, NCBI36: NC_000021.7:g.(?_14406909)_(46914780_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134119.5, VCV000144677.2 | 3 |