nsv4406813
- 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:145,410
- DGV: gssvG26013
- dbVar: essv11116196
- dbVar: essv11116197
- dbVar: essv11116198
- dbVar: essv11116199
- dbVar: essv11116200
- dbVar: essv11116201
- dbVar: essv11116202
- dbVar: essv11116203
- dbVar: essv11116204
- dbVar: essv11116205
- dbVar: essv7027693
- dbVar: essv7027694
- dbVar: essv7027695
- dbVar: essv7027696
- dbVar: essv7027697
- dbVar: essv9768049
- dbVar: essv9768050
- dbVar: nssv3604488
- dbVar: nssv3604489
- dbVar: nssv3604490
- dbVar: nssv3604491
- dbVar: nssv3604492
- dbVar: nssv3604493
- dbVar: nssv3604494
- dbVar: nssv3604495
- dbVar: nssv3604496
- dbVar: nssv3604497
- dbVar: nssv3604498
- dbVar: nssv3604499
- dbVar: nssv3604500
- dbVar: nssv3604501
- dbVar: nssv3604502
- dbVar: nssv3604503
- dbVar: nssv3604504
- dbVar: nssv3604505
- dbVar: nssv3604506
- dbVar: nssv3604507
- dbVar: nssv3604508
- dbVar: nssv3604509
- dbVar: nssv3604510
- dbVar: nssv3735270
- dbVar: nssv3735271
- dbVar: nssv3735272
- dbVar: nssv3735273
- dbVar: nssv3735274
- dbVar: nssv3735275
- dbVar: nssv3735276
- dbVar: nssv3735277
- dbVar: nssv3735278
- dbVar: nssv3735279
- dbVar: nssv3735280
- dbVar: nssv3735281
- dbVar: nssv3735282
- dbVar: nssv3735283
- dbVar: nssv971640
- dbVar: nssv971650
- dbVar: nssv971651
- dbVar: nssv971652
- dbVar: nssv971653
- dbVar: nssv971654
- 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: 491 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 67 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4406813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 118,999,514 | 118,999,514 | 119,144,923 | 119,144,923 |
nsv4406813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 118,718,361 | 118,718,361 | 118,863,770 | 118,863,770 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15711256 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15711256 | Remapped | Perfect | NC_000003.12:g.(11 8999514_118999514) _(119144923_119144 923)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 118,999,514 | 118,999,514 | 119,144,923 | 119,144,923 |
nssv15711256 | Submitted genomic | NC_000003.11:g.(11 8718361_118718361) _(118863770_118863 770)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 118,718,361 | 118,718,361 | 118,863,770 | 118,863,770 |