nsv3318813
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,793
- Publication(s):Frenkel et al. 2019
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: 192 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 69,298,712 | 69,320,504 |
| nsv3318813 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 81,873 | 103,624 |
| nsv3318813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 68,594,539 | 68,616,331 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14469690 | copy number gain | M2258 | SNP array | SNP genotyping analysis | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14469690 | Remapped | Good | NW_003315917.2:g.( ?_81873)_(103624_? )dup | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 81,873 | 103,624 |
| nssv14469690 | Remapped | Perfect | NC_000005.10:g.(?_ 69298712)_(6932050 4_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,298,712 | 69,320,504 |
| nssv14469690 | Submitted genomic | NC_000005.9:g.(?_6 8594539)_(68616331 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 68,594,539 | 68,616,331 |