nsv4413492
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117,093
- DGV: gssvG18148
- dbVar: essv33642
- dbVar: essv33843
- dbVar: essv35970
- dbVar: essv43764
- dbVar: essv46268
- dbVar: essv47041
- dbVar: essv49092
- dbVar: essv53913
- dbVar: essv55269
- dbVar: essv57171
- dbVar: essv62424
- dbVar: essv65971
- dbVar: essv68207
- dbVar: essv70494
- dbVar: essv82902
- dbVar: nssv1420022
- dbVar: nssv21490
- dbVar: nssv24395
- dbVar: nssv25558
- dbVar: nssv25917
- dbVar: nssv26403
- dbVar: nssv26645
- dbVar: nssv27225
- dbVar: nssv27669
- dbVar: nssv28420
- Overlapping Genes
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: 276 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4413492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 60,001 | 60,232 | 147,098 | 177,093 |
nsv4413492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 60,001 | 60,232 | 147,098 | 177,093 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15710116 | copy number gain | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15710116 | Remapped | Perfect | NC_000019.10:g.(60 001_60232)_(147098 _177093)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 60,001 | 60,232 | 147,098 | 177,093 |
nssv15710116 | Submitted genomic | NC_000019.9:g.(600 01_60232)_(147098_ 177093)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 60,001 | 60,232 | 147,098 | 177,093 |