nsv6621777
- Organism: Homo sapiens
- Study:nstd224 (Zarrei 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:165,563
- Publication(s):Zarrei 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: 1881 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1228 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1881 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6621777 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,088,411 | 31,253,973 |
| nsv6621777 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 1 | 144,767 |
| nsv6621777 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 31,241,345 | 31,406,907 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300898 | duplication | OSC5505 | SNP array | Probe signal intensity | nssv18300300, nssv18300899, nssv18300545 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300898 | Remapped | Pass | NT_187587.1:g.(?_1 )_(144767_?)dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 1 | 144,767 |
| nssv18300898 | Remapped | Perfect | NC_000012.12:g.(?_ 31088411)_(3125397 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,088,411 | 31,253,973 |
| nssv18300898 | Submitted genomic | NC_000012.11:g.(?_ 31241345)_(3140690 7_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,241,345 | 31,406,907 |