nsv824953
- Organism: Homo sapiens
- Study:nstd67 (Park et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,053
- Publication(s):Park et al. 2010
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: 248 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv824953 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nsv824953 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nsv824953 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1422393 | copy number loss | NA18552 | Oligo aCGH | Probe signal intensity | 610 |
| nssv1423741 | copy number gain | NA18968 | Oligo aCGH | Probe signal intensity | 670 |
| nssv1423983 | copy number gain | NA18582 | Oligo aCGH | Probe signal intensity | 637 |
| nssv1424324 | copy number gain | NA18947 | Oligo aCGH | Probe signal intensity | 653 |
| nssv1425532 | copy number gain | AK4 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1428055 | copy number gain | AK10 | Oligo aCGH | Probe signal intensity | 649 |
| nssv1436360 | copy number gain | NA18542 | Oligo aCGH | Probe signal intensity | 805 |
| nssv1438609 | copy number gain | NA18973 | Oligo aCGH | Probe signal intensity | 782 |
| nssv1439483 | copy number gain | NA18537 | Oligo aCGH | Probe signal intensity | 597 |
| nssv1440152 | copy number gain | NA18564 | Oligo aCGH | Probe signal intensity | 612 |
| nssv1440841 | copy number gain | NA18969 | Oligo aCGH | Probe signal intensity | 898 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1422393 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1423741 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1423983 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1424324 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1425532 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1428055 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1436360 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1438609 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1439483 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1440152 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1440841 | Remapped | Perfect | NC_000001.11:g.(?_ 158757130)_(158758 182_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 158,757,130 | 158,758,182 |
| nssv1422393 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1423741 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1423983 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1424324 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1425532 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1428055 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1436360 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1438609 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1439483 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1440152 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1440841 | Remapped | Perfect | NC_000001.10:g.(?_ 158726920)_(158727 972_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 158,726,920 | 158,727,972 |
| nssv1422393 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1423741 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1423983 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1424324 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1425532 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1428055 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1436360 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1438609 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1439483 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1440152 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 | ||
| nssv1440841 | Submitted genomic | NC_000001.9:g.(?_1 56993544)_(1569945 96_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 156,993,544 | 156,994,596 |