nsv4397973
- 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:1,133,151
- DGV: gssvG20484
- dbVar: essv7007737
- dbVar: essv7007741
- dbVar: essv7007742
- dbVar: essv7007743
- dbVar: essv7015155
- dbVar: essv7015166
- dbVar: essv7015177
- dbVar: essv7015190
- dbVar: essv7015201
- dbVar: essv7015212
- dbVar: essv7015223
- dbVar: essv7015234
- dbVar: essv7015245
- dbVar: essv7015256
- dbVar: essv7015267
- dbVar: essv7015278
- dbVar: essv7015301
- dbVar: essv7015312
- dbVar: essv7015323
- dbVar: essv7015334
- dbVar: essv7015345
- dbVar: essv7015356
- dbVar: essv7015367
- dbVar: essv7015378
- dbVar: essv7015389
- dbVar: essv7015400
- dbVar: essv7015412
- dbVar: nssv3582174
- dbVar: nssv3582175
- dbVar: nssv3582176
- dbVar: nssv3582178
- dbVar: nssv3582179
- dbVar: nssv3582181
- dbVar: nssv3582182
- dbVar: nssv3582183
- dbVar: nssv3582184
- dbVar: nssv3582187
- dbVar: nssv3582188
- dbVar: nssv3582190
- dbVar: nssv3582191
- dbVar: nssv3582192
- dbVar: nssv3582193
- dbVar: nssv3582194
- dbVar: nssv3582195
- dbVar: nssv3582196
- dbVar: nssv3582197
- dbVar: nssv3582198
- dbVar: nssv3582199
- dbVar: nssv3582201
- dbVar: nssv3582202
- dbVar: nssv3582203
- dbVar: nssv3582205
- dbVar: nssv3582208
- dbVar: nssv3582209
- dbVar: nssv3582210
- dbVar: nssv3582212
- dbVar: nssv3582213
- dbVar: nssv3582214
- dbVar: nssv3582216
- dbVar: nssv3582217
- dbVar: nssv3582218
- dbVar: nssv3582219
- dbVar: nssv3582223
- dbVar: nssv3582225
- dbVar: nssv3582226
- dbVar: nssv3582227
- dbVar: nssv3582228
- dbVar: nssv3582229
- dbVar: nssv3582230
- dbVar: nssv3582231
- dbVar: nssv3582232
- dbVar: nssv3582233
- dbVar: nssv3582234
- dbVar: nssv3582235
- dbVar: nssv3582236
- dbVar: nssv3582263
- dbVar: nssv3582264
- dbVar: nssv3582265
- dbVar: nssv3582266
- dbVar: nssv3582267
- dbVar: nssv3582268
- dbVar: nssv3582269
- dbVar: nssv3582270
- dbVar: nssv3582271
- dbVar: nssv3582272
- dbVar: nssv3582273
- dbVar: nssv3582275
- dbVar: nssv3582276
- dbVar: nssv3582279
- dbVar: nssv3582281
- dbVar: nssv3582283
- dbVar: nssv3582284
- dbVar: nssv3582285
- dbVar: nssv3582287
- dbVar: nssv3582288
- dbVar: nssv3582290
- dbVar: nssv3582293
- dbVar: nssv3582295
- dbVar: nssv3582296
- dbVar: nssv3582297
- dbVar: nssv3582298
- dbVar: nssv3582300
- dbVar: nssv3582301
- dbVar: nssv3582302
- dbVar: nssv3582303
- dbVar: nssv3582305
- dbVar: nssv3582306
- dbVar: nssv3582308
- dbVar: nssv3582310
- dbVar: nssv3582311
- dbVar: nssv3582313
- dbVar: nssv3582314
- dbVar: nssv3582315
- dbVar: nssv3582316
- dbVar: nssv3582317
- dbVar: nssv3582318
- dbVar: nssv3582320
- dbVar: nssv3582321
- dbVar: nssv3582322
- dbVar: nssv3582323
- dbVar: nssv3582325
- dbVar: nssv3582327
- dbVar: nssv3582328
- dbVar: nssv3582329
- dbVar: nssv3582330
- dbVar: nssv3582331
- dbVar: nssv3582332
- dbVar: nssv3582334
- dbVar: nssv3582335
- dbVar: nssv3582336
- dbVar: nssv3582337
- dbVar: nssv3582341
- dbVar: nssv3582342
- dbVar: nssv3582344
- dbVar: nssv3582349
- dbVar: nssv3582350
- dbVar: nssv3582351
- dbVar: nssv3582352
- dbVar: nssv3582353
- dbVar: nssv3582354
- dbVar: nssv3582357
- dbVar: nssv3582360
- dbVar: nssv3582362
- dbVar: nssv3582363
- dbVar: nssv3582364
- dbVar: nssv3582369
- dbVar: nssv3582370
- dbVar: nssv3582372
- dbVar: nssv3582373
- dbVar: nssv3582374
- dbVar: nssv3582375
- dbVar: nssv3582376
- dbVar: nssv3582377
- dbVar: nssv3582379
- dbVar: nssv3582380
- dbVar: nssv3582381
- dbVar: nssv3582382
- dbVar: nssv3582383
- dbVar: nssv3582385
- dbVar: nssv3582386
- dbVar: nssv3582388
- dbVar: nssv3582392
- dbVar: nssv3582393
- dbVar: nssv3582394
- dbVar: nssv3582407
- dbVar: nssv3582411
- dbVar: nssv3582414
- dbVar: nssv3582416
- dbVar: nssv3582417
- dbVar: nssv3582418
- dbVar: nssv3582420
- dbVar: nssv3582421
- dbVar: nssv3582430
- dbVar: nssv3582436
- dbVar: nssv3728713
- dbVar: nssv3728714
- dbVar: nssv3728715
- dbVar: nssv3728716
- dbVar: nssv3728717
- dbVar: nssv3728718
- dbVar: nssv3728719
- dbVar: nssv3728721
- dbVar: nssv3728722
- dbVar: nssv3728723
- dbVar: nssv3728724
- dbVar: nssv3728725
- dbVar: nssv3728728
- dbVar: nssv3728729
- dbVar: nssv3728730
- dbVar: nssv3728739
- dbVar: nssv3728740
- dbVar: nssv3728741
- dbVar: nssv3728742
- dbVar: nssv3728743
- dbVar: nssv3728744
- dbVar: nssv3728745
- dbVar: nssv3728748
- dbVar: nssv3728749
- dbVar: nssv3728751
- dbVar: nssv3728752
- dbVar: nssv3728754
- dbVar: nssv3728755
- dbVar: nssv3728756
- dbVar: nssv3728760
- dbVar: nssv3728761
- dbVar: nssv3728762
- dbVar: nssv3728765
- dbVar: nssv3728766
- dbVar: nssv3728767
- dbVar: nssv3728771
- dbVar: nssv3728773
- dbVar: nssv3728774
- dbVar: nssv3728775
- dbVar: nssv3728776
- dbVar: nssv3728777
- dbVar: nssv3728778
- dbVar: nssv3728780
- dbVar: nssv3728784
- dbVar: nssv913831
- 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: 3246 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3256 SVs from 104 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4397973 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 86,878,321 | 86,878,321 | 88,011,471 | 88,011,471 |
nsv4397973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 87,105,444 | 87,353,511 | 87,997,149 | 88,310,990 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15710486 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15710486 | Remapped | Pass | NC_000002.12:g.(86 878321_86878321)_( 88011471_88011471) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 86,878,321 | 86,878,321 | 88,011,471 | 88,011,471 |
nssv15710486 | Submitted genomic | NC_000002.11:g.(87 105444_87353511)_( 87997149_88310990) dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,105,444 | 87,353,511 | 87,997,149 | 88,310,990 |