nsv4684444
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,778,058
- Publication(s):Smajlagic et al. 2020
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: 17945 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 7426 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 20680 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684444 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,097,771 |
| nsv4684444 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv4684444 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,927,167 | 28,342,917 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215369 | duplication | mb2:o22 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215369 | Remapped | Pass | NW_011332701.1:g.( ?_1)_(4542614_?)du p | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nssv16215369 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2809777 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,097,771 |
| nssv16215369 | Submitted genomic | NC_000015.9:g.(?_2 2927167)_(28342917 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,927,167 | 28,342,917 |