nsv1039476
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:315,650
- 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: 2102 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2071 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1039476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nsv1039476 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nsv1039476 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3503945 | copy number loss | SNP array | Probe signal intensity |
| nssv3504743 | copy number gain | SNP array | Probe signal intensity |
| nssv3506589 | copy number gain | SNP array | Probe signal intensity |
| nssv3508594 | copy number gain | SNP array | Probe signal intensity |
| nssv3509600 | copy number gain | SNP array | Probe signal intensity |
| nssv3510631 | copy number gain | SNP array | Probe signal intensity |
| nssv3511761 | copy number gain | SNP array | Probe signal intensity |
| nssv3511915 | copy number gain | SNP array | Probe signal intensity |
| nssv3516470 | copy number loss | SNP array | Probe signal intensity |
| nssv3517234 | copy number gain | SNP array | Probe signal intensity |
| nssv3518333 | copy number gain | SNP array | Probe signal intensity |
| nssv3518828 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3503945 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3504743 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3506589 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3508594 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3509600 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3510631 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3511761 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3511915 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3516470 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3517234 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3518333 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3518828 | Remapped | Perfect | NC_000011.10:g.(?_ 54953335)_(5526898 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,953,335 | 55,268,984 |
| nssv3503945 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3504743 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3506589 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3508594 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3509600 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3510631 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3511761 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3511915 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3516470 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3517234 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3518333 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3518828 | Remapped | Perfect | NC_000011.9:g.(?_5 4720811)_(55036460 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,720,811 | 55,036,460 |
| nssv3503945 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3504743 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3506589 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3508594 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3509600 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3510631 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3511761 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3511915 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3516470 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3517234 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3518333 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 | ||
| nssv3518828 | Submitted genomic | NC_000011.8:g.(?_5 4477387)_(54793036 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,477,387 | 54,793,036 |