nsv1013049
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,518
- 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: 776 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 776 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 314 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1013049 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 130,044,004 | 130,177,521 |
| nsv1013049 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 129,762,847 | 129,896,364 |
| nsv1013049 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,245,537 | 131,379,054 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3603891 | copy number gain | SNP array | Probe signal intensity |
| nssv3603892 | copy number loss | SNP array | Probe signal intensity |
| nssv3734355 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3603891 | Remapped | Perfect | NC_000003.12:g.(?_ 130044004)_(130177 521_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,044,004 | 130,177,521 |
| nssv3603892 | Remapped | Perfect | NC_000003.12:g.(?_ 130044004)_(130177 521_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,044,004 | 130,177,521 |
| nssv3734355 | Remapped | Perfect | NC_000003.12:g.(?_ 130044004)_(130177 521_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,044,004 | 130,177,521 |
| nssv3603891 | Remapped | Perfect | NC_000003.11:g.(?_ 129762847)_(129896 364_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,762,847 | 129,896,364 |
| nssv3603892 | Remapped | Perfect | NC_000003.11:g.(?_ 129762847)_(129896 364_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,762,847 | 129,896,364 |
| nssv3734355 | Remapped | Perfect | NC_000003.11:g.(?_ 129762847)_(129896 364_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,762,847 | 129,896,364 |
| nssv3603891 | Submitted genomic | NC_000003.10:g.(?_ 131245537)_(131379 054_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,245,537 | 131,379,054 | ||
| nssv3603892 | Submitted genomic | NC_000003.10:g.(?_ 131245537)_(131379 054_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,245,537 | 131,379,054 | ||
| nssv3734355 | Submitted genomic | NC_000003.10:g.(?_ 131245537)_(131379 054_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,245,537 | 131,379,054 |