nsv6624285
- 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:551,717
- 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: 4913 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 1632 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 4700 SVs from 111 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624285 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,171,028 | 46,722,744 |
| nsv6624285 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 873,133 | 1,242,173 |
| nsv6624285 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,248,394 | 44,800,110 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291438 | duplication | OSC3761 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291438 | Remapped | Pass | NT_187663.1:g.(?_8 73133)_(1242173_?) dup | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 873,133 | 1,242,173 |
| nssv18291438 | Remapped | Perfect | NC_000017.11:g.(?_ 46171028)_(4672274 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,171,028 | 46,722,744 |
| nssv18291438 | Submitted genomic | NC_000017.10:g.(?_ 44248394)_(4480011 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,248,394 | 44,800,110 |