nsv3921771
- 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:1,433,800
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000134791.5
- ClinVar: RCV000134840.6
- ClinVar: RCV000137215.5
- ClinVar: VCV000145409.2
- ClinVar: VCV000145472.2
- ClinVar: VCV000148137.2
- dbVar: nssv1601540
- dbVar: nssv1601789
- dbVar: nssv1602561
- dbVar: nssv1602593
- dbVar: nssv1602691
- dbVar: nssv1603237
- dbVar: nssv1603770
- dbVar: nssv3397460
- dbVar: nssv584209
- 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: 5119 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 2708 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1663 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921771 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 46,489,780 | 47,923,579 |
| nsv3921771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,006,954 | 47,323,674 |
| nsv3921771 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,369,261 | 46,830,459 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147360 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000137215.5, VCV000148137.2 | 1 |
| nssv15148010 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134791.5, VCV000145409.2 | 3 |
| nssv15148013 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134840.6, VCV000145472.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147360 | Submitted genomic | NC_000010.11:g.(?_ 46489780)_(4792357 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,489,780 | 47,923,579 |
| nssv15148010 | Submitted genomic | NC_000010.11:g.(?_ 46489780)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,489,780 | 47,923,579 |
| nssv15148013 | Submitted genomic | NC_000010.11:g.(?_ 46489780)_(4792357 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,489,780 | 47,923,579 |
| nssv15147360 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4732367 4_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,323,674 |
| nssv15148010 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4732367 4_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,323,674 |
| nssv15148013 | Submitted genomic | NC_000010.10:g.(?_ 47006954)_(4732367 4_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,006,954 | 47,323,674 |
| nssv15147360 | Submitted genomic | NC_000010.9:g.(?_4 6369261)_(46830459 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,369,261 | 46,830,459 |
| nssv15148010 | Submitted genomic | NC_000010.9:g.(?_4 6371235)_(46830487 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,371,235 | 46,830,487 |
| nssv15148013 | Submitted genomic | NC_000010.9:g.(?_4 6404919)_(46830487 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,404,919 | 46,830,487 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147360 | GRCh37: NC_000010.10:g.(?_47006954)_(47323674_?)del, GRCh38: NC_000010.11:g.(?_46489780)_(47923579_?)del, NCBI36: NC_000010.9:g.(?_46369261)_(46830459_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000137215.5, VCV000148137.2 | 1 |
| nssv15148010 | GRCh37: NC_000010.10:g.(?_47006954)_(47323674_?)dup, GRCh38: NC_000010.11:g.(?_46489780)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46371235)_(46830487_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134791.5, VCV000145409.2 | 3 |
| nssv15148013 | GRCh37: NC_000010.10:g.(?_47006954)_(47323674_?)dup, GRCh38: NC_000010.11:g.(?_46489780)_(47923579_?)dup, NCBI36: NC_000010.9:g.(?_46404919)_(46830487_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134840.6, VCV000145472.2 | 3 |