nsv3916732
- 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:38,927,929
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000141827.5
- ClinVar: RCV000143120.6
- ClinVar: RCV000143160.5
- ClinVar: RCV000143376.5
- ClinVar: VCV000153438.2
- ClinVar: VCV000155053.2
- ClinVar: VCV000155093.2
- ClinVar: VCV000155309.2
- dbVar: nssv13638566
- dbVar: nssv13638889
- dbVar: nssv13638899
- dbVar: nssv13638962
- dbVar: nssv13639270
- dbVar: nssv13639279
- dbVar: nssv13639646
- dbVar: nssv13639833
- dbVar: nssv13639996
- dbVar: nssv13640074
- dbVar: nssv13640441
- dbVar: nssv13640447
- dbVar: nssv13640758
- dbVar: nssv13640770
- dbVar: nssv13640904
- dbVar: nssv13641141
- dbVar: nssv13641419
- dbVar: nssv13641500
- dbVar: nssv13641767
- dbVar: nssv13641982
- dbVar: nssv13642432
- dbVar: nssv13642635
- dbVar: nssv13642721
- dbVar: nssv13642967
- dbVar: nssv13642999
- dbVar: nssv13643605
- dbVar: nssv13643836
- dbVar: nssv13643888
- dbVar: nssv13643964
- dbVar: nssv13643971
- dbVar: nssv13645299
- dbVar: nssv13646001
- dbVar: nssv13646288
- dbVar: nssv13646666
- dbVar: nssv13648155
- dbVar: nssv13648392
- dbVar: nssv13649695
- dbVar: nssv13649771
- dbVar: nssv13650008
- dbVar: nssv13650396
- dbVar: nssv13650881
- dbVar: nssv13651340
- dbVar: nssv13652346
- dbVar: nssv13652629
- dbVar: nssv13654209
- dbVar: nssv13654394
- dbVar: nssv13654396
- dbVar: nssv13655015
- dbVar: nssv13656300
- dbVar: nssv13656499
- dbVar: nssv13656550
- dbVar: nssv14081940
- dbVar: nssv14081978
- dbVar: nssv14082011
- dbVar: nssv14082063
- dbVar: nssv14082188
- dbVar: nssv14082192
- dbVar: nssv14082235
- dbVar: nssv14082253
- dbVar: nssv14082328
- dbVar: nssv14082383
- dbVar: nssv14082459
- dbVar: nssv14082517
- dbVar: nssv1608283
- dbVar: nssv1609695
- dbVar: nssv1610266
- dbVar: nssv1610426
- dbVar: nssv3394978
- dbVar: nssv3395016
- dbVar: nssv3395028
- dbVar: nssv3395212
- dbVar: nssv3395219
- dbVar: nssv3395236
- dbVar: nssv3395237
- dbVar: nssv3395239
- dbVar: nssv3395241
- dbVar: nssv3395242
- dbVar: nssv3395397
- dbVar: nssv3395405
- dbVar: nssv3395406
- dbVar: nssv3396683
- dbVar: nssv3396694
- dbVar: nssv3396756
- dbVar: nssv3396829
- dbVar: nssv3396837
- dbVar: nssv3396841
- dbVar: nssv3396878
- dbVar: nssv3396931
- dbVar: nssv3396959
- dbVar: nssv3397012
- dbVar: nssv3397055
- dbVar: nssv3397097
- dbVar: nssv3397165
- dbVar: nsv931096
- dbVar: nsv931649
- dbVar: nsv995205
- dbVar: nsv995432
- 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: 113537 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 104647 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 29403 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 |
|---|---|---|---|---|---|---|---|
| nsv3916732 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,749,532 | 46,677,460 |
| nsv3916732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,006,458 | 48,097,372 |
| nsv3916732 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 13,928,329 | 46,921,800 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146752 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143160.5, VCV000155093.2 | |
| nssv15148930 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141827.5, VCV000153438.2 | 3 |
| nssv15148994 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143120.6, VCV000155053.2 | 3 |
| nssv15149002 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143376.5, VCV000155309.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146752 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46677460_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,677,460 |
| nssv15148930 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46677460_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,677,460 |
| nssv15148994 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46677460_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,677,460 |
| nssv15149002 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46677460_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,677,460 |
| nssv15146752 | Submitted genomic | NC_000021.8:g.(?_1 4386013)_(48097372 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,386,013 | 48,097,372 |
| nssv15148994 | Submitted genomic | NC_000021.8:g.(?_1 5006457)_(48097372 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,457 | 48,097,372 |
| nssv15149002 | Submitted genomic | NC_000021.8:g.(?_1 5006458)_(48097372 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,458 | 48,097,372 |
| nssv15148930 | Submitted genomic | NC_000021.8:g.(?_2 8285299)_(48097372 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 28,285,299 | 48,097,372 |
| nssv15146752 | Submitted genomic | NC_000021.7:g.(?_1 3307884)_(46921800 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,307,884 | 46,921,800 |
| nssv15148994 | Submitted genomic | NC_000021.7:g.(?_1 3928328)_(46921800 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,928,328 | 46,921,800 |
| nssv15149002 | Submitted genomic | NC_000021.7:g.(?_1 3928329)_(46921800 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,928,329 | 46,921,800 |
| nssv15148930 | Submitted genomic | NC_000021.7:g.(?_2 7207170)_(46921800 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 27,207,170 | 46,921,800 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146752 | GRCh37: NC_000021.8:g.(?_14386013)_(48097372_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46677460_?)dup, NCBI36: NC_000021.7:g.(?_13307884)_(46921800_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143160.5, VCV000155093.2 | |
| nssv15148930 | GRCh37: NC_000021.8:g.(?_28285299)_(48097372_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46677460_?)dup, NCBI36: NC_000021.7:g.(?_27207170)_(46921800_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141827.5, VCV000153438.2 | 3 |
| nssv15148994 | GRCh37: NC_000021.8:g.(?_15006457)_(48097372_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46677460_?)dup, NCBI36: NC_000021.7:g.(?_13928328)_(46921800_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143120.6, VCV000155053.2 | 3 |
| nssv15149002 | GRCh37: NC_000021.8:g.(?_15006458)_(48097372_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46677460_?)dup, NCBI36: NC_000021.7:g.(?_13928329)_(46921800_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000143376.5, VCV000155309.2 | 3 |