nsv514226
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:198,121
- Publication(s):Campbell et al. 2011
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: 733 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 733 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 252 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nsv514226 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nsv514226 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2910895 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2910896 | copy number loss | NA18516 | Oligo aCGH | Probe signal intensity | 1 | 466 |
| nssv2910897 | copy number loss | NA18868 | Oligo aCGH | Probe signal intensity | 1 | 487 |
| nssv2910898 | copy number loss | NA18870 | Oligo aCGH | Probe signal intensity | 1 | 462 |
| nssv2910899 | copy number loss | NA18933 | Oligo aCGH | Probe signal intensity | 1 | 448 |
| nssv2910900 | copy number loss | NA18935 | Oligo aCGH | Probe signal intensity | 1 | 485 |
| nssv2910901 | copy number loss | NA19093 | Oligo aCGH | Probe signal intensity | 1 | 450 |
| nssv2910902 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1 | 451 |
| nssv2910903 | copy number loss | NA19128 | Oligo aCGH | Probe signal intensity | 1 | 499 |
| nssv2910904 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1 | 465 |
| nssv2910905 | copy number loss | NA19137 | Oligo aCGH | Probe signal intensity | 1 | 461 |
| nssv2910906 | copy number loss | NA19138 | Oligo aCGH | Probe signal intensity | 1 | 464 |
| nssv2910907 | copy number loss | NA19179 | Oligo aCGH | Probe signal intensity | 1 | 455 |
| nssv2910908 | copy number loss | NA19185 | Oligo aCGH | Probe signal intensity | 1 | 433 |
| nssv2910909 | copy number loss | NA19197 | Oligo aCGH | Probe signal intensity | 1 | 459 |
| nssv2910910 | copy number loss | NA19199 | Oligo aCGH | Probe signal intensity | 1 | 472 |
| nssv2910911 | copy number loss | NA19239 | Oligo aCGH | Probe signal intensity | 1 | 492 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2910895 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910896 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910897 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910898 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910899 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910900 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910901 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910902 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910903 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910904 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910905 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910906 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910907 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910908 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910909 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910910 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910911 | Remapped | Perfect | NC_000004.12:g.(?_ 72554619)_(7275273 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 72,554,619 | 72,752,739 |
| nssv2910895 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910896 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910897 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910898 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910899 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910900 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910901 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910902 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910903 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910904 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910905 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910906 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910907 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910908 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910909 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910910 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910911 | Remapped | Perfect | NC_000004.11:g.(?_ 73420336)_(7361845 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 73,420,336 | 73,618,456 |
| nssv2910895 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910896 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910897 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910898 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910899 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910900 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910901 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910902 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910903 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910904 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910905 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910906 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910907 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910908 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910909 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910910 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 | ||
| nssv2910911 | Submitted genomic | NC_000004.10:g.(?_ 73639200)_(7383732 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 73,639,200 | 73,837,320 |