nsv1043891
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:257,574
- 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: 1689 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1658 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 648 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1043891 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nsv1043891 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nsv1043891 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3504136 | copy number gain | SNP array | Probe signal intensity |
| nssv3506072 | copy number loss | SNP array | Probe signal intensity |
| nssv3506388 | copy number gain | SNP array | Probe signal intensity |
| nssv3507212 | copy number gain | SNP array | Probe signal intensity |
| nssv3507963 | copy number loss | SNP array | Probe signal intensity |
| nssv3510569 | copy number gain | SNP array | Probe signal intensity |
| nssv3510906 | copy number loss | SNP array | Probe signal intensity |
| nssv3511619 | copy number gain | SNP array | Probe signal intensity |
| nssv3511973 | copy number gain | SNP array | Probe signal intensity |
| nssv3513173 | copy number gain | SNP array | Probe signal intensity |
| nssv3513765 | copy number gain | SNP array | Probe signal intensity |
| nssv3516694 | copy number gain | SNP array | Probe signal intensity |
| nssv3518741 | copy number gain | SNP array | Probe signal intensity |
| nssv3522544 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3504136 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3506072 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3506388 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3507212 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3507963 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3510569 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3510906 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3511619 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3511973 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3513173 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3513765 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3516694 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3518741 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3522544 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5521090 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,210,908 |
| nssv3504136 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3506072 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3506388 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3507212 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3507963 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3510569 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3510906 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3511619 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3511973 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3513173 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3513765 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3516694 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3518741 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3522544 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(54978384 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 54,978,384 |
| nssv3504136 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3506072 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3506388 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3507212 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3507963 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3510569 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3510906 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3511619 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3511973 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3513173 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3513765 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3516694 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3518741 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 | ||
| nssv3522544 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54734960 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,734,960 |