nsv1195229
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:138,689
- Publication(s):Polyak et al. 2015
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: 1046 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1046 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 502 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195229 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nsv1195229 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nsv1195229 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459161 | copy number gain | 27889 | Oligo aCGH | Probe signal intensity | nssv7474907 |
| nssv7463152 | copy number gain | 19811 | Oligo aCGH | Probe signal intensity | nssv7468596 |
| nssv7463455 | copy number gain | 19657 | Oligo aCGH | Probe signal intensity | nssv7474679, nssv7472141 |
| nssv7467133 | copy number gain | 30976 | Oligo aCGH | Probe signal intensity | nssv7470508, nssv7469609, nssv7463034 |
| nssv7467260 | copy number gain | 25713 | Oligo aCGH | Probe signal intensity | nssv7460125, nssv7464549, nssv7470800 |
| nssv7469506 | copy number gain | 25469 | Oligo aCGH | Probe signal intensity | nssv7467281, nssv7461854 |
| nssv7469819 | copy number gain | 24012 | Oligo aCGH | Probe signal intensity | nssv7469714, nssv7461155 |
| nssv7470437 | copy number gain | 15139 | Oligo aCGH | Probe signal intensity | nssv7473344 |
| nssv7470605 | copy number gain | 24492 | Oligo aCGH | Probe signal intensity | nssv7472330, nssv7463632, nssv7464072 |
| nssv7472044 | copy number gain | 29542 | Oligo aCGH | Probe signal intensity | nssv7464634, nssv7459425, nssv7473644 |
| nssv7473857 | copy number gain | 19570 | Oligo aCGH | Probe signal intensity | nssv7461946 |
| nssv7474265 | copy number gain | 18810 | Oligo aCGH | Probe signal intensity | nssv7460919, nssv7464131 |
| nssv7474605 | copy number gain | 16588 | Oligo aCGH | Probe signal intensity | nssv7461782, nssv7461805 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459161 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7463152 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7463455 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7467133 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7467260 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7469506 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7469819 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7470437 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7470605 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7472044 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7473857 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7474265 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7474605 | Remapped | Perfect | NC_000002.12:g.(?_ 110084137)_(110222 825_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,084,137 | 110,222,825 |
| nssv7459161 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7463152 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7463455 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7467133 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7467260 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7469506 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7469819 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7470437 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7470605 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7472044 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7473857 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7474265 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7474605 | Remapped | Perfect | NC_000002.11:g.(?_ 110841714)_(110980 402_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 110,841,714 | 110,980,402 |
| nssv7459161 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7463152 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7463455 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7467133 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7467260 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7469506 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7469819 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7470437 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7470605 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7472044 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7473857 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7474265 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 | ||
| nssv7474605 | Submitted genomic | NC_000002.10:g.(?_ 110199003)_(110337 691_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 110,199,003 | 110,337,691 |