nsv9916
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,923
- Publication(s):Perry 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: 110 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv9916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,703,556 |
| nsv9916 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,099,436 |
| nsv9916 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 43,418,051 | 43,419,973 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv23037 | copy number gain | NA12872 | Oligo aCGH | Probe signal intensity | 470 |
| nssv23299 | copy number gain | NA18572 | Oligo aCGH | Probe signal intensity | 483 |
| nssv26061 | copy number gain | NA18563 | Oligo aCGH | Probe signal intensity | 588 |
| nssv26340 | copy number gain | NA11830 | Oligo aCGH | Probe signal intensity | 568 |
| nssv26434 | copy number gain | NA12740 | Oligo aCGH | Probe signal intensity | 572 |
| nssv27380 | copy number gain | NA12155 | Oligo aCGH | Probe signal intensity | 667 |
| nssv27421 | copy number gain | NA18504 | Oligo aCGH | Probe signal intensity | 700 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv23037 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv23299 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv26061 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv26340 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv26434 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv27380 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv27421 | Remapped | Perfect | NC_000022.11:g.(44 701634_44702490)_( 44702961_44703556) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,701,634 | 44,702,490 | 44,702,961 | 44,703,556 |
| nssv23037 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv23299 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv26061 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv26340 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv26434 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv27380 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv27421 | Remapped | Perfect | NC_000022.10:g.(45 097514_45098370)_( 45098841_45099436) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,097,514 | 45,098,370 | 45,098,841 | 45,099,436 |
| nssv23037 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv23299 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv26061 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv26340 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv26434 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv27380 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 | ||
| nssv27421 | Submitted genomic | NC_000022.8:g.(434 18051_43418907)_(4 3419378_43419973)d up | NCBI35 (hg17) | NC_000022.8 | Chr22 | 43,418,051 | 43,418,907 | 43,419,378 | 43,419,973 |