nsv471530
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:27,470
- Description:C2orf78
- Publication(s):Alkan et al. 2009
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: 210 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 73,782,586 | 73,810,055 |
nsv471530 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 74,009,713 | 74,037,182 |
nsv471530 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 73,921,368 | 73,948,837 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv547923 | Remapped | Perfect | NC_000002.12:g.(73 782586_?)_(?_73810 055)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,586 | 73,810,055 |
nssv547934 | Remapped | Perfect | NC_000002.12:g.(73 782586_?)_(?_73810 055)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,586 | 73,810,055 |
nssv547945 | Remapped | Perfect | NC_000002.12:g.(73 782586_?)_(?_73810 055)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,586 | 73,810,055 |
nssv547923 | Remapped | Perfect | NC_000002.11:g.(74 009713_?)_(?_74037 182)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,713 | 74,037,182 |
nssv547934 | Remapped | Perfect | NC_000002.11:g.(74 009713_?)_(?_74037 182)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,713 | 74,037,182 |
nssv547945 | Remapped | Perfect | NC_000002.11:g.(74 009713_?)_(?_74037 182)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,713 | 74,037,182 |
nssv547923 | Submitted genomic | NC_000002.9:g.(739 21368_?)_(?_739488 37)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 73,921,368 | 73,948,837 | ||
nssv547934 | Submitted genomic | NC_000002.9:g.(739 21368_?)_(?_739488 37)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 73,921,368 | 73,948,837 | ||
nssv547945 | Submitted genomic | NC_000002.9:g.(739 21368_?)_(?_739488 37)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 73,921,368 | 73,948,837 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv547923 | 3 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv547934 | 3 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
nssv547945 | 3 | YH | Oligo aCGH | Probe signal intensity | Pass |