nsv9045
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,369
- 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: 126 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 24 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 |
---|---|---|---|---|---|---|---|---|---|
nsv9045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,869,532 | 131,906,900 |
nsv9045 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 132,354,077 | 132,391,445 |
nsv9045 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 131,020,307 | 131,057,675 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv26321 | copy number gain | NA19221 | Oligo aCGH | Probe signal intensity | 857 |
nssv21375 | copy number loss | NA18537 | Oligo aCGH | Probe signal intensity | 587 |
nssv18610 | copy number loss | NA12802 | Oligo aCGH | Probe signal intensity | 447 |
nssv18881 | copy number gain | NA12872 | Oligo aCGH | Probe signal intensity | 470 |
nssv19115 | copy number gain | NA10847 | Oligo aCGH | Probe signal intensity | 437 |
nssv19189 | copy number gain | NA18572 | Oligo aCGH | Probe signal intensity | 483 |
nssv19832 | copy number gain | NA07029 | Oligo aCGH | Probe signal intensity | 544 |
nssv20496 | copy number gain | NA10863 | Oligo aCGH | Probe signal intensity | 530 |
nssv20643 | copy number gain | NA07048 | Oligo aCGH | Probe signal intensity | 564 |
nssv21599 | copy number gain | NA19173 | Oligo aCGH | Probe signal intensity | 603 |
nssv21669 | copy number gain | NA12740 | Oligo aCGH | Probe signal intensity | 572 |
nssv22228 | copy number gain | NA19144 | Oligo aCGH | Probe signal intensity | 629 |
nssv23265 | copy number gain | NA18504 | Oligo aCGH | Probe signal intensity | 700 |
nssv24070 | copy number gain | NA18502 | Oligo aCGH | Probe signal intensity | 703 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv26321 | Remapped | Perfect | NC_000012.12:g.(13 1869532_131871822) _(131903253_131906 900)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,869,532 | 131,871,822 | 131,903,253 | 131,906,900 |
nssv21375 | Remapped | Perfect | NC_000012.12:g.(13 1894084_131895059) _(131895354_131895 596)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,894,084 | 131,895,059 | 131,895,354 | 131,895,596 |
nssv18610 | Remapped | Perfect | NC_000012.12:g.(13 1894084_131895059) _(131895776_131896 174)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,894,084 | 131,895,059 | 131,895,776 | 131,896,174 |
nssv18881 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv19115 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv19189 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv19832 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv20496 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv20643 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv21599 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv21669 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv22228 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv23265 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv24070 | Remapped | Perfect | NC_000012.12:g.(13 1895354_131895596) _(131895776_131896 174)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,895,354 | 131,895,596 | 131,895,776 | 131,896,174 |
nssv26321 | Remapped | Perfect | NC_000012.11:g.(13 2354077_132356367) _(132387798_132391 445)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,354,077 | 132,356,367 | 132,387,798 | 132,391,445 |
nssv21375 | Remapped | Perfect | NC_000012.11:g.(13 2378629_132379604) _(132379899_132380 141)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,378,629 | 132,379,604 | 132,379,899 | 132,380,141 |
nssv18610 | Remapped | Perfect | NC_000012.11:g.(13 2378629_132379604) _(132380321_132380 719)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,378,629 | 132,379,604 | 132,380,321 | 132,380,719 |
nssv18881 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv19115 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv19189 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv19832 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv20496 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv20643 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv21599 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv21669 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv22228 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv23265 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv24070 | Remapped | Perfect | NC_000012.11:g.(13 2379899_132380141) _(132380321_132380 719)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 132,379,899 | 132,380,141 | 132,380,321 | 132,380,719 |
nssv26321 | Submitted genomic | NC_000012.9:g.(131 020307_131022597)_ (131054028_1310576 75)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,020,307 | 131,022,597 | 131,054,028 | 131,057,675 | ||
nssv21375 | Submitted genomic | NC_000012.9:g.(131 044859_131045834)_ (131046129_1310463 71)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,044,859 | 131,045,834 | 131,046,129 | 131,046,371 | ||
nssv18610 | Submitted genomic | NC_000012.9:g.(131 044859_131045834)_ (131046551_1310469 49)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,044,859 | 131,045,834 | 131,046,551 | 131,046,949 | ||
nssv18881 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv19115 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv19189 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv19832 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv20496 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv20643 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv21599 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv21669 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv22228 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv23265 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 | ||
nssv24070 | Submitted genomic | NC_000012.9:g.(131 046129_131046371)_ (131046551_1310469 49)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 131,046,129 | 131,046,371 | 131,046,551 | 131,046,949 |