nsv6634885
- 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:152,618
- 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: 1716 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1051 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1065 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1766 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634885 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 44,935 | 194,247 |
| nsv6634885 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 153,651 |
| nsv6634885 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 186,568 |
| nsv6634885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 44,935 | 194,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18328655 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328655 | Remapped | Good | NT_187558.1:g.(103 4_?)_(?_153651)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 153,651 |
| nssv18328655 | Remapped | Perfect | NT_187653.1:g.(372 56_?)_(?_186568)du p | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 186,568 |
| nssv18328655 | Remapped | Perfect | NC_000007.14:g.(44 935_?)_(?_194247)d up | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 194,247 |
| nssv18328655 | Submitted genomic | NC_000007.13:g.(44 935_?)_(?_194247)d up | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 194,247 |