nsv6623065
- 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:130,236
- 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: 741 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 407 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 741 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623065 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 29,596,192 | 29,726,423 |
| nsv6623065 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,880,319 | 2,010,554 |
| nsv6623065 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,767,835 | 1,898,070 |
| nsv6623065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 29,888,396 | 30,018,627 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296018 | duplication | OSC4640 | SNP array | Probe signal intensity | nssv18295700, nssv18295468 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296018 | Remapped | Good | NT_187660.1:g.(?_1 880319)_(2010554_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,880,319 | 2,010,554 |
| nssv18296018 | Remapped | Good | NW_011332701.1:g.( ?_1767835)_(189807 0_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,767,835 | 1,898,070 |
| nssv18296018 | Remapped | Perfect | NC_000015.10:g.(?_ 29596192)_(2972642 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,596,192 | 29,726,423 |
| nssv18296018 | Submitted genomic | NC_000015.9:g.(?_2 9888396)_(30018627 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 29,888,396 | 30,018,627 |