nsv6635582
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:244,696
- 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: 3927 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1888 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 3747 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6635582 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,028,029 | - | 46,272,724 |
| nsv6635582 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 730,141 | 954,783 | - |
| nsv6635582 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,105,395 | - | 44,350,090 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327632 | duplication | SNP array | Probe signal intensity |
| nssv18327633 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18327632 | Remapped | Pass | NT_187663.1:g.(730 141_?)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 730,141 | 954,783 | - |
| nssv18327633 | Remapped | Pass | NT_187663.1:g.(730 141_?)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 730,141 | 954,783 | - |
| nssv18327632 | Remapped | Perfect | NC_000017.11:g.(46 028029_?)_(?_46272 724)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,028,029 | - | 46,272,724 |
| nssv18327633 | Remapped | Perfect | NC_000017.11:g.(46 028029_?)_(?_46272 724)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,028,029 | - | 46,272,724 |
| nssv18327632 | Submitted genomic | NC_000017.10:g.(44 105395_?)_(?_44350 090)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,105,395 | - | 44,350,090 | ||
| nssv18327633 | Submitted genomic | NC_000017.10:g.(44 105395_?)_(?_44350 090)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,105,395 | - | 44,350,090 |