nsv428384
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,344
- 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: 521 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428384 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nsv428384 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nsv428384 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv453945 | copy number loss | NA19108 | BAC aCGH | Probe signal intensity | 84 |
| nssv453946 | copy number gain | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv453947 | copy number loss | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv453921 | copy number loss | HGDP00460 | BAC aCGH | Probe signal intensity | 67 |
| nssv453922 | copy number loss | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv453923 | copy number loss | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv453924 | copy number loss | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv453925 | copy number loss | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv453926 | copy number loss | HGDP00472 | BAC aCGH | Probe signal intensity | 65 |
| nssv453927 | copy number loss | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
| nssv453928 | copy number loss | HGDP00478 | BAC aCGH | Probe signal intensity | 38 |
| nssv453929 | copy number loss | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv453930 | copy number loss | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
| nssv453932 | copy number loss | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv453933 | copy number loss | HGDP01087 | BAC aCGH | Probe signal intensity | 75 |
| nssv453934 | copy number loss | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv453935 | copy number loss | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
| nssv453936 | copy number loss | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv453937 | copy number loss | HGDP01094 | BAC aCGH | Probe signal intensity | 92 |
| nssv453938 | copy number loss | NA18916 | BAC aCGH | Probe signal intensity | 90 |
| nssv453939 | copy number loss | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv453940 | copy number loss | NA19181 | BAC aCGH | Probe signal intensity | 87 |
| nssv453941 | copy number loss | NA19189 | BAC aCGH | Probe signal intensity | 94 |
| nssv453943 | copy number loss | NA19225 | BAC aCGH | Probe signal intensity | 71 |
| nssv453944 | copy number loss | NA19257 | BAC aCGH | Probe signal intensity | 86 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv453945 | Remapped | Perfect | NC_000022.11:g.(?_ 15794562)_(1584809 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,848,098 |
| nssv453946 | Remapped | Perfect | NC_000022.11:g.(?_ 15794562)_(1584809 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,848,098 |
| nssv453947 | Remapped | Perfect | NC_000022.11:g.(?_ 15794562)_(1584809 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,848,098 |
| nssv453921 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453922 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453923 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453924 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453925 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453926 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453927 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453928 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453929 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453930 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453932 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453933 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453934 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453935 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453936 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453937 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453938 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453939 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453940 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453941 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453943 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453944 | Remapped | Good | NC_000022.11:g.(?_ 15794562)_(1591790 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,794,562 | 15,917,905 |
| nssv453921 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453922 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453923 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453924 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453925 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453926 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453927 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453928 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453929 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453930 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453932 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453933 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453934 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453935 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453936 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453937 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453938 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453939 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453940 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453941 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453943 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453944 | Remapped | Pass | NC_000022.10:g.(?_ 16087694)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,087,694 | 16,183,401 |
| nssv453945 | Remapped | Perfect | NC_000022.10:g.(?_ 16129865)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,129,865 | 16,183,401 |
| nssv453946 | Remapped | Perfect | NC_000022.10:g.(?_ 16129865)_(1618340 1_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,129,865 | 16,183,401 |
| nssv453947 | Remapped | Perfect | NC_000022.10:g.(?_ 16129865)_(1618340 1_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,129,865 | 16,183,401 |
| nssv453921 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453922 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453923 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453924 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453925 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453926 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453927 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453928 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453929 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453930 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453932 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453933 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453934 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453935 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453936 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453937 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453938 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453939 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453940 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453941 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453943 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453944 | Submitted genomic | NC_000022.9:g.(?_1 4440103)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,440,103 | 14,563,401 | ||
| nssv453945 | Submitted genomic | NC_000022.9:g.(?_1 4509865)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,509,865 | 14,563,401 | ||
| nssv453946 | Submitted genomic | NC_000022.9:g.(?_1 4509865)_(14563401 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,509,865 | 14,563,401 | ||
| nssv453947 | Submitted genomic | NC_000022.9:g.(?_1 4509865)_(14563401 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 14,509,865 | 14,563,401 |