nsv4417731
- 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:55,849
- DGV: gssvL23177
- dbVar: essv14374161
- dbVar: essv14374162
- dbVar: essv14374163
- dbVar: essv14374164
- dbVar: essv14374165
- dbVar: essv14374166
- dbVar: essv14374167
- dbVar: essv14374168
- dbVar: essv14374169
- dbVar: essv14374170
- dbVar: essv14374171
- dbVar: essv14374172
- dbVar: essv14374173
- dbVar: essv14374174
- dbVar: essv14374175
- dbVar: essv14374176
- dbVar: essv14374177
- dbVar: essv14374178
- dbVar: essv14374179
- dbVar: essv14374180
- dbVar: essv14374181
- dbVar: essv14374182
- dbVar: essv14374183
- dbVar: essv14374184
- dbVar: essv14374185
- dbVar: essv14374186
- dbVar: essv14374187
- dbVar: essv14374188
- dbVar: essv14374189
- dbVar: essv14374190
- dbVar: essv14374191
- dbVar: essv14374192
- dbVar: essv14374193
- dbVar: essv14374194
- dbVar: essv14374195
- dbVar: essv14374196
- dbVar: essv14374197
- dbVar: essv14374198
- dbVar: essv14374199
- dbVar: essv14374200
- dbVar: essv14374201
- dbVar: essv14374202
- dbVar: essv14374203
- dbVar: essv14374204
- dbVar: essv14374205
- dbVar: essv14374206
- dbVar: essv14374207
- dbVar: essv14374208
- dbVar: essv14374209
- dbVar: essv14374210
- dbVar: essv14374211
- dbVar: essv14374212
- dbVar: essv14374213
- dbVar: essv14374214
- dbVar: essv14374215
- dbVar: essv14374216
- dbVar: essv14374217
- dbVar: essv14374218
- dbVar: essv14374219
- dbVar: essv14374220
- dbVar: essv14374221
- dbVar: essv14374222
- dbVar: essv14374223
- dbVar: essv14374224
- dbVar: essv14374225
- dbVar: essv14374226
- dbVar: essv14374227
- dbVar: essv14374228
- dbVar: essv14374229
- dbVar: essv14374230
- dbVar: essv14374231
- dbVar: essv14374232
- dbVar: essv14374233
- dbVar: essv14374234
- dbVar: essv14374235
- dbVar: essv14374236
- dbVar: essv14374237
- dbVar: essv14374238
- dbVar: essv14374239
- dbVar: essv14374240
- dbVar: essv14374241
- dbVar: essv14374242
- dbVar: essv14374243
- dbVar: essv14374244
- dbVar: essv14374245
- dbVar: essv14374246
- dbVar: essv14374247
- dbVar: essv14374248
- dbVar: essv14374249
- dbVar: essv14374250
- dbVar: essv14374251
- dbVar: essv14374252
- dbVar: essv14374253
- dbVar: essv14374254
- dbVar: essv14374255
- dbVar: essv14374256
- dbVar: essv14374257
- dbVar: essv14374258
- dbVar: essv14374259
- dbVar: essv14374260
- dbVar: essv14374261
- dbVar: essv14374262
- dbVar: essv14374263
- dbVar: essv14374264
- dbVar: essv14374265
- dbVar: essv14374266
- dbVar: essv14374267
- dbVar: essv14374268
- dbVar: essv14374269
- dbVar: essv14374270
- dbVar: essv14374271
- dbVar: essv14374272
- dbVar: essv14374273
- dbVar: essv26444
- dbVar: essv32326
- dbVar: essv46494
- dbVar: essv49726
- dbVar: essv54992
- dbVar: essv58989
- dbVar: essv61985
- dbVar: essv76352
- dbVar: essv79352
- dbVar: essv82362
- dbVar: nssv3513726
- dbVar: nssv788018
- dbVar: nssv788019
- dbVar: nssv788020
- dbVar: nssv788021
- dbVar: nssv788022
- dbVar: nssv788023
- dbVar: nssv788024
- dbVar: nssv788026
- dbVar: nssv788027
- 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: 632 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 633 SVs from 75 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4417731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,395,301 | 10,414,394 | 10,446,262 | 10,451,149 |
nsv4417731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 10,547,900 | 10,566,993 | 10,598,861 | 10,603,748 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15718929 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15718929 | Remapped | Perfect | NC_000012.12:g.(10 395301_10414394)_( 10446262_10451149) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,395,301 | 10,414,394 | 10,446,262 | 10,451,149 |
nssv15718929 | Submitted genomic | NC_000012.11:g.(10 547900_10566993)_( 10598861_10603748) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,547,900 | 10,566,993 | 10,598,861 | 10,603,748 |