nsv1025687
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:210,660
- Publication(s):Coe et al. 2014
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: 2148 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 583 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 535 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1719 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1025687 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nsv1025687 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nsv1025687 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nsv1025687 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nsv1025687 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nsv1025687 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3443729 | copy number gain | 9885676 | Oligo aCGH | Probe signal intensity | nssv3472851, nssv3459413 |
| nssv3443757 | copy number loss | 9870343 | Oligo aCGH | Probe signal intensity | nssv3454604, nssv3455850 |
| nssv3449945 | copy number loss | 9864623 | Oligo aCGH | Probe signal intensity | nssv3475056, nssv3477904, nssv3446667 |
| nssv3453010 | copy number loss | 9865055 | Oligo aCGH | Probe signal intensity | 6 |
| nssv3455962 | copy number loss | 9862168 | Oligo aCGH | Probe signal intensity | nssv3445770, nssv3458021 |
| nssv3458317 | copy number loss | 9873150 | Oligo aCGH | Probe signal intensity | nssv3452389, nssv3453547 |
| nssv3459099 | copy number gain | 9880863 | Oligo aCGH | Probe signal intensity | nssv3456341, nssv3451052 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3443729 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d up | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3443757 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3449945 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3453010 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3455962 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3458317 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3459099 | Remapped | Pass | NT_187679.1:g.(?_4 17757)_(555799_?)d up | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 417,757 | 555,799 |
| nssv3443729 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d up | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3443757 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3449945 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3453010 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3455962 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3458317 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3459099 | Remapped | Pass | NT_187543.1:g.(?_1 02581)_(244096_?)d up | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 102,581 | 244,096 |
| nssv3443729 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d up | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3443757 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3449945 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3453010 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3455962 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3458317 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3459099 | Remapped | Good | NT_187650.1:g.(?_1 02581)_(313240_?)d up | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 102,581 | 313,240 |
| nssv3443729 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3443757 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3449945 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3453010 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3455962 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3458317 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3459099 | Remapped | Perfect | NC_000004.12:g.(?_ 189769028)_(189975 709_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,769,028 | 189,975,709 |
| nssv3443729 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3443757 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3449945 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3453010 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3455962 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3458317 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3459099 | Remapped | Pass | NC_000004.11:g.(?_ 190690182)_(190828 225_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,690,182 | 190,828,225 |
| nssv3443729 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3443757 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3449945 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3453010 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3455962 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3458317 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 | ||
| nssv3459099 | Submitted genomic | NC_000004.10:g.(?_ 190927176)_(191133 858_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,927,176 | 191,133,858 |