nsv482870
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:154,859
- Publication(s):Sharp et al. 2006
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: 529 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482870 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nsv482870 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nsv482870 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nsv482870 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3005738 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3005769 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv3005951 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3006006 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3006010 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3006490 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3006843 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3007136 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3007188 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3007479 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3008866 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3008907 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3009145 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3009400 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3009495 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3010470 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3005738 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3005769 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3005951 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3006006 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3006010 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3006490 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3006843 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3007136 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3007188 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3007479 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3008866 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3008907 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3009145 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3009400 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3009495 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3010470 | Remapped | Perfect | NC_000017.11:g.(?_ 64560692)_(6471555 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,560,692 | 64,715,550 |
| nssv3005738 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3005769 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)dup | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3005951 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3006006 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3006010 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3006490 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3006843 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3007136 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3007188 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3007479 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3008866 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3008907 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3009145 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3009400 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3009495 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3010470 | Remapped | Pass | NW_003315947.1:g.( ?_364539)_(457041_ ?)del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 364,539 | 457,041 |
| nssv3005738 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3005769 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)dup | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3005951 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3006006 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3006010 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3006490 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3006843 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3007136 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3007188 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3007479 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3008866 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3008907 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3009145 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3009400 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3009495 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3010470 | Remapped | Pass | NC_000017.10:g.(?_ 62556810)_(6264931 2_?)del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,556,810 | 62,649,312 |
| nssv3005738 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3005769 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)dup | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3005951 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3006006 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3006010 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3006490 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3006843 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3007136 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3007188 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3007479 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3008866 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3008907 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3009145 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3009400 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3009495 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 | ||
| nssv3010470 | Submitted genomic | NC_000017.8:g.(?_6 3106911)_(63261769 _?)del | NCBI34 (hg16) | NC_000017.8 | Chr17 | 63,106,911 | 63,261,769 |