nsv6634944
- 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:1,233,107
- 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: 17896 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 10452 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 16034 SVs from 129 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 Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6634944 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,450,460 | - | - | 106,683,566 |
| nsv6634944 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 1 | 1,214,078 | - |
| nsv6634944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 105,916,797 | - | - | 107,139,583 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18327435 | 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 Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18327435 | Remapped | Good | NT_187600.1:g.(?_1 )_(1214078_?)dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 1 | 1,214,078 | - |
| nssv18327435 | Remapped | Good | NC_000014.9:g.(105 450460_?)_(?_10668 3566)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,450,460 | - | - | 106,683,566 |
| nssv18327435 | Submitted genomic | NC_000014.8:g.(105 916797_?)_(?_10713 9583)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 105,916,797 | - | - | 107,139,583 |