nsv6635096
- 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:127,578
- 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: 2543 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1234 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1232 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2539 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,984,407 | 242,106,609 |
| nsv6635096 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 23,102 | 150,679 |
| nsv6635096 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 23,102 | 150,319 |
| nsv6635096 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,926,558 | 243,048,760 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18328041 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328041 | Remapped | Good | NT_187647.1:g.(231 02_?)_(?_150319)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 23,102 | 150,319 |
| nssv18328041 | Remapped | Good | NT_187523.1:g.(231 02_?)_(?_150679)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 23,102 | 150,679 |
| nssv18328041 | Remapped | Perfect | NC_000002.12:g.(24 1984407_?)_(?_2421 06609)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,984,407 | 242,106,609 |
| nssv18328041 | Submitted genomic | NC_000002.11:g.(24 2926558_?)_(?_2430 48760)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,926,558 | 243,048,760 |