nsv483167
- Organism: Homo sapiens
- Study:nstd42 (Sharp et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, qPCR
- Submitted on:NCBI35 (hg17)
- Publication(s):Sharp et al. 2008
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: 11128 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11131 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv483167 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 32,610,507 |
| nsv483167 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 32,902,708 |
| nsv483167 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 26,900,000 | - | 30,690,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| nssv566899 | copy number loss | 543/06 | Oligo aCGH | Probe signal intensity | Developmental Disabilities | Uncertain significance | Submitter |
| nssv566900 | copy number loss | 543/06F | Oligo aCGH | Probe signal intensity | Developmental Disabilities | Uncertain significance | Submitter |
| nssv566906 | copy number loss | IMR338 | Oligo aCGH | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566907 | copy number loss | IMR338Cc | Oligo aCGH | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566908 | copy number loss | IMR338M | Oligo aCGH | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566898 | copy number loss | 02961 | Oligo aCGH | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566901 | copy number loss | 69/06 | Oligo aCGH | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566902 | copy number loss | CMS5803 | qPCR | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566903 | copy number loss | CMS5826 | qPCR | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566904 | copy number loss | CMS7833 | qPCR | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
| nssv566905 | copy number loss | CMS7906 | qPCR | Probe signal intensity | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv566899 | Remapped | Pass | NT_187660.1:g.(?_1 192197)_(?_2365709 )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | - | 1,192,197 | 2,365,709 |
| nssv566900 | Remapped | Pass | NT_187660.1:g.(?_1 192197)_(?_2365709 )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | - | 1,192,197 | 2,365,709 |
| nssv566899 | Remapped | Pass | NW_011332701.1:g.( ?_1079713)_(?_2253 225)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | - | 1,079,713 | 2,253,225 |
| nssv566900 | Remapped | Pass | NW_011332701.1:g.( ?_1079713)_(?_2253 225)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | - | 1,079,713 | 2,253,225 |
| nssv566899 | Remapped | Pass | NC_000015.10:g.(?_ 28917241)_(?_30080 505)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 30,080,505 |
| nssv566900 | Remapped | Pass | NC_000015.10:g.(?_ 28917241)_(?_30080 505)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 30,080,505 |
| nssv566906 | Remapped | Good | NC_000015.10:g.(?_ 28917241)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 32,610,507 |
| nssv566907 | Remapped | Good | NC_000015.10:g.(?_ 28917241)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 32,610,507 |
| nssv566908 | Remapped | Good | NC_000015.10:g.(?_ 28917241)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | - | 28,917,241 | 32,610,507 |
| nssv566898 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566901 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566902 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566903 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566904 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566905 | Remapped | Perfect | NC_000015.10:g.(30 080505_?)_(?_32610 507)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,080,505 | - | 32,610,507 |
| nssv566899 | Remapped | Pass | NC_000015.9:g.(?_2 9209444)_(?_303727 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 30,372,708 |
| nssv566900 | Remapped | Pass | NC_000015.9:g.(?_2 9209444)_(?_303727 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 30,372,708 |
| nssv566906 | Remapped | Good | NC_000015.9:g.(?_2 9209444)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 32,902,708 |
| nssv566907 | Remapped | Good | NC_000015.9:g.(?_2 9209444)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 32,902,708 |
| nssv566908 | Remapped | Good | NC_000015.9:g.(?_2 9209444)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | - | 29,209,444 | 32,902,708 |
| nssv566898 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566901 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566902 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566903 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566904 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566905 | Remapped | Perfect | NC_000015.9:g.(303 72708_?)_(?_329027 08)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,372,708 | - | 32,902,708 |
| nssv566899 | Submitted genomic | NC_000015.8:g.(269 00000_?)_(?_281600 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 26,900,000 | - | 28,160,000 | ||
| nssv566900 | Submitted genomic | NC_000015.8:g.(269 00000_?)_(?_281600 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 26,900,000 | - | 28,160,000 | ||
| nssv566906 | Submitted genomic | NC_000015.8:g.(269 00000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 26,900,000 | - | 30,690,000 | ||
| nssv566907 | Submitted genomic | NC_000015.8:g.(269 00000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 26,900,000 | - | 30,690,000 | ||
| nssv566908 | Submitted genomic | NC_000015.8:g.(269 00000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 26,900,000 | - | 30,690,000 | ||
| nssv566898 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 | ||
| nssv566901 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 | ||
| nssv566902 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 | ||
| nssv566903 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 | ||
| nssv566904 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 | ||
| nssv566905 | Submitted genomic | NC_000015.8:g.(281 60000_?)_(?_306900 00)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 28,160,000 | - | 30,690,000 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv566902 | 3 | CMS5803 | BAC aCGH | Probe signal intensity | Pass |
| nssv566903 | 3 | CMS5826 | BAC aCGH | Probe signal intensity | Pass |
| nssv566904 | 3 | CMS7833 | BAC aCGH | Probe signal intensity | Pass |
| nssv566905 | 3 | CMS7906 | BAC aCGH | Probe signal intensity | Pass |
| nssv566902 | 4 | CMS5803 | Oligo aCGH | Probe signal intensity | Pass |
| nssv566903 | 4 | CMS5826 | Oligo aCGH | Probe signal intensity | Pass |
| nssv566904 | 4 | CMS7833 | Oligo aCGH | Probe signal intensity | Pass |
| nssv566905 | 4 | CMS7906 | Oligo aCGH | Probe signal intensity | Pass |
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv566899 | 543/06 | NCBI35: NC_000015.8:g.(26900000_?)_(?_28160000)del | copy number loss | paternal | Developmental Disabilities | Uncertain significance | Submitter | Female |
| nssv566900 | 543/06F | NCBI35: NC_000015.8:g.(26900000_?)_(?_28160000)del | copy number loss | Developmental Disabilities | Uncertain significance | Submitter | Male | |
| nssv566906 | IMR338 | NCBI35: NC_000015.8:g.(26900000_?)_(?_30690000)del | copy number loss | maternal | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female |
| nssv566907 | IMR338Cc | NCBI35: NC_000015.8:g.(26900000_?)_(?_30690000)del | copy number loss | maternal | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female |
| nssv566908 | IMR338M | NCBI35: NC_000015.8:g.(26900000_?)_(?_30690000)del | copy number loss | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female | |
| nssv566898 | 02961 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | de novo | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female |
| nssv566901 | 69/06 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | de novo | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female |
| nssv566902 | CMS5803 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | maternal | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Male |
| nssv566903 | CMS5826 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Male | |
| nssv566904 | CMS7833 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female | |
| nssv566905 | CMS7906 | NCBI35: NC_000015.8:g.(28160000_?)_(?_30690000)del | copy number loss | CHROMOSOME 15q13.3 DELETION SYNDROME | Pathogenic | Submitter | Female |