nsv6630789
- 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:113,148
- 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: 638 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 638 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630789 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 69,420,485 | 69,533,632 |
| nsv6630789 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 203,908 | 316,576 |
| nsv6630789 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 68,716,312 | 68,829,459 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18308970 | duplication | OSC7065 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18308970 | Remapped | Good | NW_003315917.2:g.( ?_203908)_(316576_ ?)dup | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 203,908 | 316,576 |
| nssv18308970 | Remapped | Perfect | NC_000005.10:g.(?_ 69420485)_(6953363 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,420,485 | 69,533,632 |
| nssv18308970 | Submitted genomic | NC_000005.9:g.(?_6 8716312)_(68829459 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 68,716,312 | 68,829,459 |