nsv10533
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,217
- 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: 261 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv10533 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 90,921,625 | 91,014,841 |
nsv10533 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 91,842,776 | 91,935,992 |
nsv10533 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 92,199,954 | 92,293,170 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv11916 | copy number loss | NA10863 | Oligo aCGH | Probe signal intensity | 530 |
nssv13221 | copy number gain | NA18860 | Oligo aCGH | Probe signal intensity | 768 |
nssv13362 | copy number gain | NA18502 | Oligo aCGH | Probe signal intensity | 703 |
nssv14310 | copy number gain | NA19221 | Oligo aCGH | Probe signal intensity | 857 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv11916 | Remapped | Perfect | NC_000004.12:g.(90 921625_91014067)_( 91014452_91014841) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,921,625 | 91,014,067 | 91,014,452 | 91,014,841 |
nssv13221 | Remapped | Perfect | NC_000004.12:g.(90 921625_91014067)_( 91014452_91014841) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,921,625 | 91,014,067 | 91,014,452 | 91,014,841 |
nssv13362 | Remapped | Perfect | NC_000004.12:g.(90 921625_91014067)_( 91014452_91014841) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,921,625 | 91,014,067 | 91,014,452 | 91,014,841 |
nssv14310 | Remapped | Perfect | NC_000004.12:g.(90 921625_91014067)_( 91014452_91014841) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,921,625 | 91,014,067 | 91,014,452 | 91,014,841 |
nssv11916 | Remapped | Perfect | NC_000004.11:g.(91 842776_91935218)_( 91935603_91935992) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 91,842,776 | 91,935,218 | 91,935,603 | 91,935,992 |
nssv13221 | Remapped | Perfect | NC_000004.11:g.(91 842776_91935218)_( 91935603_91935992) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 91,842,776 | 91,935,218 | 91,935,603 | 91,935,992 |
nssv13362 | Remapped | Perfect | NC_000004.11:g.(91 842776_91935218)_( 91935603_91935992) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 91,842,776 | 91,935,218 | 91,935,603 | 91,935,992 |
nssv14310 | Remapped | Perfect | NC_000004.11:g.(91 842776_91935218)_( 91935603_91935992) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 91,842,776 | 91,935,218 | 91,935,603 | 91,935,992 |
nssv11916 | Submitted genomic | NC_000004.9:g.(921 99954_92292396)_(9 2292781_92293170)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 92,199,954 | 92,292,396 | 92,292,781 | 92,293,170 | ||
nssv13221 | Submitted genomic | NC_000004.9:g.(921 99954_92292396)_(9 2292781_92293170)d up | NCBI35 (hg17) | NC_000004.9 | Chr4 | 92,199,954 | 92,292,396 | 92,292,781 | 92,293,170 | ||
nssv13362 | Submitted genomic | NC_000004.9:g.(921 99954_92292396)_(9 2292781_92293170)d up | NCBI35 (hg17) | NC_000004.9 | Chr4 | 92,199,954 | 92,292,396 | 92,292,781 | 92,293,170 | ||
nssv14310 | Submitted genomic | NC_000004.9:g.(921 99954_92292396)_(9 2292781_92293170)d up | NCBI35 (hg17) | NC_000004.9 | Chr4 | 92,199,954 | 92,292,396 | 92,292,781 | 92,293,170 |