nsv932776
- Organism: Homo sapiens
- Study:nstd79 (Dittwald et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,578,326
- Publication(s):Dittwald et al. 2013
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: 10286 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 10479 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv932776 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,159,724 | 18,159,724 | 20,738,049 | 20,738,049 |
| nsv932776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,642,491 | 19,023,012 | 21,021,869 | 21,092,337 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1610675 | deletion | 1108 | Oligo aCGH | Probe signal intensity | |
| nssv1610764 | deletion | 275 | Oligo aCGH | Probe signal intensity | |
| nssv1610889 | deletion | 285 | Oligo aCGH | Probe signal intensity | |
| nssv1612557 | duplication | 90 | Oligo aCGH | Probe signal intensity | nssv1612553 |
| nssv1611301 | deletion | 1055 | Oligo aCGH | Probe signal intensity | |
| nssv1612190 | duplication | 1258 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1610675 | Remapped | Pass | NC_000022.11:g.(18 157561_18157561)_( 20726972_20726972) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,157,561 | 18,157,561 | 20,726,972 | 20,726,972 |
| nssv1610764 | Remapped | Pass | NC_000022.11:g.(18 339130_19079905)_( 20720987_20720987) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 19,079,905 | 20,720,987 | 20,720,987 |
| nssv1610889 | Remapped | Pass | NC_000022.11:g.(18 339130_19079905)_( 20720987_20720987) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 19,079,905 | 20,720,987 | 20,720,987 |
| nssv1612557 | Remapped | Pass | NC_000022.11:g.(18 339130_19079905)_( 20720987_20720987) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 19,079,905 | 20,720,987 | 20,720,987 |
| nssv1611301 | Remapped | Pass | NC_000022.11:g.(18 339130_18924934)_( 20726972_20726972) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 18,924,934 | 20,726,972 | 20,726,972 |
| nssv1612190 | Remapped | Pass | NC_000022.11:g.(18 339130_18927742)_( 20726972_20726972) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 18,927,742 | 20,726,972 | 20,726,972 |
| nssv1610675 | Remapped | Good | NC_000022.10:g.(18 640328_18640328)_( 21081260_21081260) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,640,328 | 18,640,328 | 21,081,260 | 21,081,260 |
| nssv1611301 | Remapped | Good | NC_000022.10:g.(18 912447_18912447)_( 21081260_21081260) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,912,447 | 18,912,447 | 21,081,260 | 21,081,260 |
| nssv1612190 | Remapped | Good | NC_000022.10:g.(18 915255_18915255)_( 21081260_21081260) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,915,255 | 18,915,255 | 21,081,260 | 21,081,260 |
| nssv1610764 | Remapped | Good | NC_000022.10:g.(19 067418_19067418)_( 21075275_21075275) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 19,067,418 | 19,067,418 | 21,075,275 | 21,075,275 |
| nssv1610889 | Remapped | Good | NC_000022.10:g.(19 067418_19067418)_( 21075275_21075275) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 19,067,418 | 19,067,418 | 21,075,275 | 21,075,275 |
| nssv1612557 | Remapped | Good | NC_000022.10:g.(19 067418_19067418)_( 21075275_21075275) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 19,067,418 | 19,067,418 | 21,075,275 | 21,075,275 |
| nssv1610675 | Submitted genomic | NC_000022.9:g.(170 20328_17292403)_(1 9322700_19411260)d el | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,020,328 | 17,292,403 | 19,322,700 | 19,411,260 | ||
| nssv1611301 | Submitted genomic | NC_000022.9:g.(172 92447_17292471)_(1 9322700_19411260)d el | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,292,447 | 17,292,471 | 19,322,700 | 19,411,260 | ||
| nssv1612190 | Submitted genomic | NC_000022.9:g.(172 95255_17295282)_(1 9322700_19411260)d up | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,295,255 | 17,295,282 | 19,322,700 | 19,411,260 | ||
| nssv1610764 | Submitted genomic | NC_000022.9:g.(174 47418_17452734)_(1 9362298_19405275)d el | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,447,418 | 17,452,734 | 19,362,298 | 19,405,275 | ||
| nssv1610889 | Submitted genomic | NC_000022.9:g.(174 47418_17452734)_(1 9362298_19405275)d el | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,447,418 | 17,452,734 | 19,362,298 | 19,405,275 | ||
| nssv1612557 | Submitted genomic | NC_000022.9:g.(174 47418_17448651)_(1 9362298_19405275)d up | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,447,418 | 17,448,651 | 19,362,298 | 19,405,275 |