nsv3916025
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,951
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000134307.4
- ClinVar: RCV000134308.3
- ClinVar: RCV000134309.3
- ClinVar: VCV000144903.1
- ClinVar: VCV000144904.1
- ClinVar: VCV000144905.1
- dbVar: nssv1608470
- dbVar: nssv1609469
- dbVar: nssv583419
- dbVar: nssv585040
- dbVar: nssv585070
- dbVar: nssv585122
- dbVar: nssv585161
- dbVar: nsv497378
- 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: 243 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3916025 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 57,052,810 | 57,085,760 |
nsv3916025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 56,917,608 | 56,950,558 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15119445 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134308.3, VCV000144904.1 | 4 |
nssv15120065 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134307.4, VCV000144903.1 | 3 |
nssv15120066 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134309.3, VCV000144905.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15119445 | Submitted genomic | NC_000006.12:g.(?_ 57052810)_(5708576 0_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 57,052,810 | 57,085,760 |
nssv15120065 | Submitted genomic | NC_000006.12:g.(?_ 57052810)_(5708576 0_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 57,052,810 | 57,085,760 |
nssv15120066 | Submitted genomic | NC_000006.12:g.(?_ 57052810)_(5708576 0_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 57,052,810 | 57,085,760 |
nssv15119445 | Submitted genomic | NC_000006.11:g.(?_ 56917608)_(5695055 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 56,917,608 | 56,950,558 |
nssv15120065 | Submitted genomic | NC_000006.11:g.(?_ 56917608)_(5695055 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 56,917,608 | 56,950,558 |
nssv15120066 | Submitted genomic | NC_000006.11:g.(?_ 56917608)_(5695055 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 56,917,608 | 56,950,558 |
nssv15120065 | Submitted genomic | NC_000006.10:g.(?_ 57025567)_(5705851 7_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 57,025,567 | 57,058,517 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15119445 | GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)dup, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000134308.3, VCV000144904.1 | 4 |
nssv15120065 | GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)dup, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)dup, NCBI36: NC_000006.10:g.(?_57025567)_(57058517_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134307.4, VCV000144903.1 | 3 |
nssv15120066 | GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)del, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000134309.3, VCV000144905.1 | 1 |