nsv471596
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:206,034
- Publication(s):Sharp et al. 2005
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: 980 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 980 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nsv471596 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nsv471596 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv549099 | copy number loss | GM10469A | BAC aCGH | Probe signal intensity | 56 |
| nssv549100 | copy number loss | GM10471 | BAC aCGH | Probe signal intensity | 51 |
| nssv549101 | copy number loss | GM10494A | BAC aCGH | Probe signal intensity | 55 |
| nssv549102 | copy number gain | GM10495B | BAC aCGH | Probe signal intensity | 45 |
| nssv549103 | copy number loss | GM10496A | BAC aCGH | Probe signal intensity | 59 |
| nssv549104 | copy number loss | GM10967 | BAC aCGH | Probe signal intensity | 58 |
| nssv549105 | copy number loss | GM10969 | BAC aCGH | Probe signal intensity | 51 |
| nssv549106 | copy number loss | GM10970 | BAC aCGH | Probe signal intensity | 55 |
| nssv549107 | copy number loss | GM10971 | BAC aCGH | Probe signal intensity | 56 |
| nssv549108 | copy number loss | GM10976 | BAC aCGH | Probe signal intensity | 56 |
| nssv549109 | copy number gain | GM10979 | BAC aCGH | Probe signal intensity | 65 |
| nssv549110 | copy number loss | GM11323 | BAC aCGH | Probe signal intensity | 53 |
| nssv549111 | copy number loss | GM15724 | BAC aCGH | Probe signal intensity | 41 |
| nssv549112 | copy number loss | GM15726 | BAC aCGH | Probe signal intensity | 41 |
| nssv549113 | copy number loss | GM15727 | BAC aCGH | Probe signal intensity | 44 |
| nssv549114 | copy number loss | GM15729 | BAC aCGH | Probe signal intensity | 47 |
| nssv549115 | copy number loss | GM15730 | BAC aCGH | Probe signal intensity | 49 |
| nssv549116 | copy number loss | GM15731 | BAC aCGH | Probe signal intensity | 42 |
| nssv549117 | copy number loss | GM15733 | BAC aCGH | Probe signal intensity | 51 |
| nssv549118 | copy number loss | GM16688 | BAC aCGH | Probe signal intensity | 44 |
| nssv549119 | copy number loss | GM17015 | BAC aCGH | Probe signal intensity | 60 |
| nssv549120 | copy number loss | GM17016 | BAC aCGH | Probe signal intensity | 47 |
| nssv549121 | copy number loss | GM17051 | BAC aCGH | Probe signal intensity | 54 |
| nssv549122 | copy number loss | GM17052 | BAC aCGH | Probe signal intensity | 50 |
| nssv549123 | copy number loss | GM17058 | BAC aCGH | Probe signal intensity | 54 |
| nssv549124 | copy number loss | JK1688B | BAC aCGH | Probe signal intensity | 53 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv549099 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549100 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549101 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549102 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549103 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549104 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549105 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549106 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549107 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549108 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549109 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549110 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549111 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549112 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549113 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549114 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549115 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549116 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549117 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549118 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549119 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549120 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549121 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549122 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549123 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549124 | Remapped | Perfect | NC_000022.11:g.(?_ 21335907)_(2154194 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,335,907 | 21,541,940 |
| nssv549099 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549100 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549101 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549102 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549103 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549104 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549105 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549106 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549107 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549108 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549109 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549110 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549111 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549112 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549113 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549114 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549115 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549116 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549117 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549118 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549119 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549120 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549121 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549122 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549123 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549124 | Remapped | Perfect | NC_000022.10:g.(?_ 21690196)_(2189622 9_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,690,196 | 21,896,229 |
| nssv549099 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549100 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549101 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549102 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549103 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549104 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549105 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549106 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549107 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549108 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549109 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)dup | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549110 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549111 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549112 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549113 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549114 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549115 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549116 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549117 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549118 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549119 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549120 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549121 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549122 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549123 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 | ||
| nssv549124 | Submitted genomic | NC_000022.7:g.(?_2 0014750)_(20220783 _?)del | NCBI34 (hg16) | NC_000022.7 | Chr22 | 20,014,750 | 20,220,783 |