nsv3921603
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:38,920,874
- Description:GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 AND See cases
- ClinVar: RCV000050445.13
- ClinVar: RCV000053068.5
- ClinVar: RCV000053069.5
- ClinVar: RCV000148131.5
- ClinVar: VCV000032099.2
- ClinVar: VCV000059246.1
- ClinVar: VCV000059247.1
- ClinVar: VCV000160886.1
- dbVar: nssv14082268
- dbVar: nssv3395969
- dbVar: nssv3395978
- dbVar: nssv3396139
- dbVar: nssv3396200
- dbVar: nssv575712
- dbVar: nssv575716
- dbVar: nssv576343
- dbVar: nssv576377
- dbVar: nssv576378
- dbVar: nssv576482
- dbVar: nssv576538
- dbVar: nssv576562
- dbVar: nssv578882
- dbVar: nssv578883
- dbVar: nssv578884
- dbVar: nssv578885
- dbVar: nssv578886
- dbVar: nssv578887
- dbVar: nssv578888
- dbVar: nssv578889
- dbVar: nssv578890
- dbVar: nssv578893
- dbVar: nssv578894
- dbVar: nssv578898
- dbVar: nssv578902
- dbVar: nssv578904
- dbVar: nssv578905
- dbVar: nssv582221
- dbVar: nssv582305
- dbVar: nssv582422
- dbVar: nssv582535
- dbVar: nssv582536
- dbVar: nssv582557
- dbVar: nssv582789
- dbVar: nssv582844
- dbVar: nssv582928
- dbVar: nssv582929
- dbVar: nssv583144
- dbVar: nssv706204
- dbVar: nssv706324
- dbVar: nsv1067641
- dbVar: nsv529118
- dbVar: nsv531758
- dbVar: nsv531759
- 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: 102922 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 28851 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 |
|---|---|---|---|---|---|---|---|
| nsv3921603 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,749,532 | 46,670,405 |
| nsv3921603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,499,847 | 48,090,317 |
| nsv3921603 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 14,421,718 | 46,914,745 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145650 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050445.13, VCV000032099.2 | 3 |
| nssv15145793 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053068.5, VCV000059246.1 | 3 |
| nssv15145794 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053069.5, VCV000059247.1 | 3 |
| nssv15146803 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148131.5, VCV000160886.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145650 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670405_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,405 |
| nssv15145793 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670405_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,405 |
| nssv15145794 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670405_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,405 |
| nssv15146803 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46670405_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,670,405 |
| nssv15145650 | Submitted genomic | NC_000021.8:g.(?_1 5499847)_(48090317 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,499,847 | 48,090,317 |
| nssv15146803 | Submitted genomic | NC_000021.8:g.(?_1 5499847)_(48090317 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,499,847 | 48,090,317 |
| nssv15145793 | Submitted genomic | NC_000021.8:g.(?_2 0655360)_(48090317 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 20,655,360 | 48,090,317 |
| nssv15145794 | Submitted genomic | NC_000021.8:g.(?_3 4423268)_(48090317 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 34,423,268 | 48,090,317 |
| nssv15145650 | Submitted genomic | NC_000021.7:g.(?_1 4421718)_(46914745 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,421,718 | 46,914,745 |
| nssv15146803 | Submitted genomic | NC_000021.7:g.(?_1 4421718)_(46914745 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,421,718 | 46,914,745 |
| nssv15145793 | Submitted genomic | NC_000021.7:g.(?_1 9577231)_(46914745 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 19,577,231 | 46,914,745 |
| nssv15145794 | Submitted genomic | NC_000021.7:g.(?_3 3345138)_(46914745 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 33,345,138 | 46,914,745 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145650 | GRCh37: NC_000021.8:g.(?_15499847)_(48090317_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670405_?)dup, NCBI36: NC_000021.7:g.(?_14421718)_(46914745_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050445.13, VCV000032099.2 | 3 |
| nssv15145793 | GRCh37: NC_000021.8:g.(?_20655360)_(48090317_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670405_?)dup, NCBI36: NC_000021.7:g.(?_19577231)_(46914745_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053068.5, VCV000059246.1 | 3 |
| nssv15145794 | GRCh37: NC_000021.8:g.(?_34423268)_(48090317_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670405_?)dup, NCBI36: NC_000021.7:g.(?_33345138)_(46914745_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053069.5, VCV000059247.1 | 3 |
| nssv15146803 | GRCh37: NC_000021.8:g.(?_15499847)_(48090317_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46670405_?)dup, NCBI36: NC_000021.7:g.(?_14421718)_(46914745_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000148131.5, VCV000160886.1 | 3 |