nsv3916057
- 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:1,433,299
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000134841.5
- ClinVar: RCV000137212.5
- ClinVar: RCV000142486.5
- ClinVar: RCV000142487.5
- ClinVar: VCV000145473.2
- ClinVar: VCV000148134.2
- ClinVar: VCV000154419.2
- ClinVar: VCV000154420.2
- dbVar: nssv1601489
- dbVar: nssv1601592
- dbVar: nssv1601683
- dbVar: nssv1601783
- dbVar: nssv1601962
- dbVar: nssv1602337
- dbVar: nssv1602620
- dbVar: nssv1602849
- dbVar: nssv1603494
- dbVar: nssv1603532
- dbVar: nssv1603755
- dbVar: nssv1603878
- dbVar: nssv1604615
- dbVar: nssv1604772
- dbVar: nssv582078
- dbVar: nssv584005
- dbVar: nssv584008
- dbVar: nssv706710
- dbVar: nssv706788
- dbVar: nssv706807
- dbVar: nssv706880
- dbVar: nsv497876
- dbVar: nsv497879
- dbVar: nsv497939
- dbVar: nsv534645
- 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: 5058 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 3316 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1687 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916057 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 46,490,281 | 47,923,579 |
| nsv3916057 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,951,229 | 47,410,481 |
| nsv3916057 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,371,235 | 46,830,487 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146021 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142487.5, VCV000154420.2 | 1 |
| nssv15147274 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134841.5, VCV000145473.2 | 1 |
| nssv15148114 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000137212.5, VCV000148134.2 | 3 |
| nssv15148959 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142486.5, VCV000154419.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146021 | Submitted genomic | NC_000010.11:g.(?_ 46490281)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,490,281 | 47,923,579 |
| nssv15147274 | Submitted genomic | NC_000010.11:g.(?_ 46490281)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,490,281 | 47,923,579 |
| nssv15148114 | Submitted genomic | NC_000010.11:g.(?_ 46490281)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,490,281 | 47,923,579 |
| nssv15148959 | Submitted genomic | NC_000010.11:g.(?_ 46490281)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,490,281 | 47,923,579 |
| nssv15148959 | Submitted genomic | NC_000010.10:g.(?_ 46609932)_(4741048 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,609,932 | 47,410,481 |
| nssv15148114 | Submitted genomic | NC_000010.10:g.(?_ 46949255)_(4741045 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,949,255 | 47,410,453 |
| nssv15146021 | Submitted genomic | NC_000010.10:g.(?_ 46951229)_(4741048 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,951,229 | 47,410,481 |
| nssv15147274 | Submitted genomic | NC_000010.10:g.(?_ 46984913)_(4741048 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,984,913 | 47,410,481 |
| nssv15148959 | Submitted genomic | NC_000010.9:g.(?_4 6029938)_(46830487 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,029,938 | 46,830,487 |
| nssv15148114 | Submitted genomic | NC_000010.9:g.(?_4 6369261)_(46830459 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,369,261 | 46,830,459 |
| nssv15146021 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(46830487 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 46,830,487 |
| nssv15147274 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(46830487 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 46,830,487 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146021 | GRCh37: NC_000010.10:g.(?_46951229)_(47410481_?)del, GRCh38: NC_000010.11:g.(?_46490281)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46371235)_(46830487_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000142487.5, VCV000154420.2 | 1 |
| nssv15147274 | GRCh37: NC_000010.10:g.(?_46984913)_(47410481_?)del, GRCh38: NC_000010.11:g.(?_46490281)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46404919)_(46830487_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000134841.5, VCV000145473.2 | 1 |
| nssv15148114 | GRCh37: NC_000010.10:g.(?_46949255)_(47410453_?)dup, GRCh38: NC_000010.11:g.(?_46490281)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46369261)_(46830459_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000137212.5, VCV000148134.2 | 3 |
| nssv15148959 | GRCh37: NC_000010.10:g.(?_46609932)_(47410481_?)dup, GRCh38: NC_000010.11:g.(?_46490281)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46029938)_(46830487_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142486.5, VCV000154419.2 | 3 |