nsv3924800
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:570,440
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000050397.10
- ClinVar: RCV000050398.14
- ClinVar: RCV000148150.5
- ClinVar: VCV000032255.3
- ClinVar: VCV000034545.2
- ClinVar: VCV000160908.2
- dbVar: nssv14082098
- dbVar: nssv3395503
- dbVar: nssv3396055
- dbVar: nssv3396062
- dbVar: nssv3396107
- dbVar: nssv3397458
- dbVar: nssv576314
- dbVar: nssv576653
- dbVar: nssv580136
- dbVar: nssv580137
- dbVar: nssv580138
- dbVar: nssv580139
- dbVar: nssv580143
- dbVar: nssv580147
- dbVar: nssv582396
- dbVar: nssv582407
- dbVar: nssv582410
- dbVar: nssv582431
- dbVar: nssv582450
- dbVar: nsv1067747
- dbVar: nsv529075
- 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: 1555 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1555 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924800 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 21,826,171 | 22,396,610 |
| nsv3924800 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 21,837,492 | 22,407,931 |
| nsv3924800 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 21,744,993 | 22,315,432 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132485 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000050397.10, VCV000034545.2 | 3 |
| nssv15132486 | copy number loss | Multiple | Multiple | See cases | Uncertain significance; Pathogenic/Likely pathogenic | ClinVar | RCV000050398.14, VCV000032255.3 | 1 |
| nssv15139695 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000148150.5, VCV000160908.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132485 | Submitted genomic | NC_000016.10:g.(?_ 21826171)_(2239661 0_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,826,171 | 22,396,610 |
| nssv15132486 | Submitted genomic | NC_000016.10:g.(?_ 21826171)_(2239661 0_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,826,171 | 22,396,610 |
| nssv15139695 | Submitted genomic | NC_000016.10:g.(?_ 21826171)_(2239661 0_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 21,826,171 | 22,396,610 |
| nssv15132485 | Submitted genomic | NC_000016.9:g.(?_2 1837492)_(22407931 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 21,837,492 | 22,407,931 |
| nssv15132486 | Submitted genomic | NC_000016.9:g.(?_2 1837492)_(22407931 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 21,837,492 | 22,407,931 |
| nssv15139695 | Submitted genomic | NC_000016.9:g.(?_2 1837492)_(22407931 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 21,837,492 | 22,407,931 |
| nssv15132485 | Submitted genomic | NC_000016.8:g.(?_2 1744993)_(22315432 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 21,744,993 | 22,315,432 |
| nssv15132486 | Submitted genomic | NC_000016.8:g.(?_2 1744993)_(22315432 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 21,744,993 | 22,315,432 |
| nssv15139695 | Submitted genomic | NC_000016.8:g.(?_2 1744993)_(22315432 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 21,744,993 | 22,315,432 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132485 | GRCh37: NC_000016.9:g.(?_21837492)_(22407931_?)dup, GRCh38: NC_000016.10:g.(?_21826171)_(22396610_?)dup, NCBI36: NC_000016.8:g.(?_21744993)_(22315432_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000050397.10, VCV000034545.2 | 3 |
| nssv15132486 | GRCh37: NC_000016.9:g.(?_21837492)_(22407931_?)del, GRCh38: NC_000016.10:g.(?_21826171)_(22396610_?)del, NCBI36: NC_000016.8:g.(?_21744993)_(22315432_?)del | copy number loss | see ClinVar for details | See cases | Uncertain significance; Pathogenic/Likely pathogenic | ClinVar | RCV000050398.14, VCV000032255.3 | 1 |
| nssv15139695 | GRCh37: NC_000016.9:g.(?_21837492)_(22407931_?)del, GRCh38: NC_000016.10:g.(?_21826171)_(22396610_?)del, NCBI36: NC_000016.8:g.(?_21744993)_(22315432_?)del | copy number loss | see ClinVar for details | See cases | Uncertain significance | ClinVar | RCV000148150.5, VCV000160908.2 | 1 |