nsv4427263
- 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:67,814
- DGV: gssvG19220
- dbVar: essv16075177
- dbVar: essv16075178
- dbVar: essv16075179
- dbVar: essv16075180
- dbVar: essv16075181
- dbVar: essv16075182
- dbVar: essv16075183
- dbVar: essv16075184
- dbVar: essv16075185
- dbVar: essv16075186
- dbVar: essv7025781
- dbVar: essv7025782
- dbVar: essv7025783
- dbVar: essv7025784
- dbVar: essv7025785
- dbVar: essv7025786
- dbVar: essv7025787
- dbVar: essv7025788
- dbVar: essv7025790
- dbVar: nssv3574983
- 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: 486 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 486 SVs from 63 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4427263 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,115,521 | 49,128,820 | 49,174,720 | 49,183,334 |
nsv4427263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 49,618,778 | 49,632,077 | 49,677,977 | 49,686,591 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15710286 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15710286 | Remapped | Perfect | NC_000019.10:g.(49 115521_49128820)_( 49174720_49183334) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,115,521 | 49,128,820 | 49,174,720 | 49,183,334 |
nssv15710286 | Submitted genomic | NC_000019.9:g.(496 18778_49632077)_(4 9677977_49686591)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,618,778 | 49,632,077 | 49,677,977 | 49,686,591 |