nsv471483
- 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:60,952
- Description:FBXO25
- 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: 588 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 15 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471483 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 389,001 | 449,952 |
nsv471483 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 339,001 | 399,952 |
nsv471483 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 329,001 | 389,952 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv548402 | Remapped | Perfect | NC_000008.11:g.(38 9001_?)_(?_449952) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 389,001 | 449,952 |
nssv548403 | Remapped | Perfect | NC_000008.11:g.(38 9001_?)_(?_449952) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 389,001 | 449,952 |
nssv548404 | Remapped | Perfect | NC_000008.11:g.(38 9001_?)_(?_449952) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 389,001 | 449,952 |
nssv548402 | Remapped | Perfect | NC_000008.10:g.(33 9001_?)_(?_399952) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 339,001 | 399,952 |
nssv548403 | Remapped | Perfect | NC_000008.10:g.(33 9001_?)_(?_399952) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 339,001 | 399,952 |
nssv548404 | Remapped | Perfect | NC_000008.10:g.(33 9001_?)_(?_399952) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 339,001 | 399,952 |
nssv548402 | Submitted genomic | NC_000008.9:g.(329 001_?)_(?_389952)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 329,001 | 389,952 | ||
nssv548403 | Submitted genomic | NC_000008.9:g.(329 001_?)_(?_389952)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 329,001 | 389,952 | ||
nssv548404 | Submitted genomic | NC_000008.9:g.(329 001_?)_(?_389952)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 329,001 | 389,952 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv548402 | 3 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv548403 | 3 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
nssv548404 | 3 | YH | Oligo aCGH | Probe signal intensity | Pass |