nsv6635927
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:402,144
- Publication(s):Kikas et al. 2023
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: 4856 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1769 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 4712 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635927 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,100,627 | 46,502,770 |
| nsv6635927 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 802,733 | 1,022,465 |
| nsv6635927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,177,993 | 44,580,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327675 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18327675 | Remapped | Pass | NT_187663.1:g.(802 733_?)_(?_1022465) dup | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 802,733 | 1,022,465 |
| nssv18327675 | Remapped | Perfect | NC_000017.11:g.(46 100627_?)_(?_46502 770)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,100,627 | 46,502,770 |
| nssv18327675 | Submitted genomic | NC_000017.10:g.(44 177993_?)_(?_44580 136)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,177,993 | 44,580,136 |