nsv3112524
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,513,785
- Publication(s):Lu et al. 2017
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: 4269 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 939 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 400 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 4273 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3112524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 69,499,909 | 71,013,693 |
| nsv3112524 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 1 | 794,347 |
| nsv3112524 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 397,152 | 1,248,408 |
| nsv3112524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 68,795,736 | 70,309,520 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14109440 | duplication | sample346 | Oligo aCGH | Probe signal intensity | 74 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109440 | Remapped | Pass | NT_187651.1:g.(?_1 )_(794347_?)dup | GRCh38.p12 | Second Pass | NT_187651.1 | Chr5|NT_18 7651.1 | 1 | 794,347 |
| nssv14109440 | Remapped | Pass | NW_003315917.2:g.( ?_397152)_(1248408 _?)dup | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 397,152 | 1,248,408 |
| nssv14109440 | Remapped | Perfect | NC_000005.10:g.(?_ 69499909)_(7101369 3_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,499,909 | 71,013,693 |
| nssv14109440 | Submitted genomic | NC_000005.9:g.(?_6 8795736)_(70309520 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 68,795,736 | 70,309,520 |