nsv4405239
- 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:306,770
- DGV: gssvL105999
- dbVar: essv6671062
- dbVar: essv6676493
- dbVar: essv6676494
- dbVar: essv6678010
- dbVar: essv6680349
- dbVar: essv6680350
- dbVar: essv6683964
- dbVar: essv6683966
- dbVar: essv6687212
- dbVar: essv6694115
- dbVar: essv6697900
- dbVar: essv6701009
- dbVar: essv6703388
- dbVar: essv6704944
- dbVar: essv6708385
- dbVar: essv6711794
- dbVar: essv6719358
- dbVar: essv6723180
- dbVar: essv6723181
- dbVar: essv6727077
- dbVar: essv6728420
- dbVar: essv6730848
- dbVar: essv6734316
- dbVar: essv6736940
- dbVar: essv6743118
- dbVar: essv6748700
- dbVar: essv6754480
- dbVar: essv6757365
- dbVar: essv6762608
- dbVar: essv6764970
- dbVar: essv6767476
- dbVar: essv6770780
- dbVar: essv6778136
- dbVar: essv6778137
- dbVar: essv6782141
- dbVar: essv6790475
- dbVar: essv6794611
- dbVar: essv6794612
- dbVar: essv6794832
- dbVar: essv6798784
- dbVar: essv6798785
- dbVar: essv6802547
- dbVar: essv6805369
- dbVar: essv6811276
- dbVar: essv6811278
- dbVar: essv6814259
- dbVar: essv6814270
- dbVar: essv6818172
- dbVar: essv6825654
- dbVar: essv6826341
- dbVar: essv6826343
- dbVar: essv6830132
- dbVar: essv6833719
- dbVar: essv6837406
- dbVar: essv6837407
- dbVar: essv6837408
- dbVar: essv6841217
- dbVar: essv6844886
- dbVar: essv6849072
- dbVar: essv6855054
- dbVar: essv6860783
- dbVar: essv6865549
- dbVar: essv6869669
- dbVar: essv6869670
- dbVar: essv6872687
- dbVar: essv6875661
- dbVar: essv6875662
- dbVar: essv6878584
- dbVar: essv6878585
- dbVar: essv6881367
- dbVar: essv6881368
- dbVar: essv6883486
- dbVar: essv6884178
- dbVar: essv6884179
- dbVar: essv6886977
- dbVar: essv6886978
- dbVar: essv6887699
- dbVar: essv6890182
- dbVar: essv6890183
- dbVar: essv6893493
- dbVar: essv6896757
- dbVar: essv6899649
- dbVar: essv6899650
- dbVar: essv6899651
- dbVar: essv6903698
- dbVar: essv6907492
- dbVar: essv6911314
- dbVar: essv6915027
- dbVar: essv6918734
- dbVar: essv6923020
- dbVar: essv6926741
- dbVar: essv6927840
- dbVar: essv6930391
- dbVar: essv6934657
- dbVar: essv6938946
- dbVar: essv6943351
- dbVar: essv6947752
- dbVar: essv6951039
- dbVar: essv6956927
- dbVar: essv6960329
- dbVar: essv6963657
- dbVar: essv6974724
- dbVar: nssv1052564
- 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: 4991 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 4991 SVs from 117 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4405239 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,224,111 | 31,224,833 | 31,527,541 | 31,530,880 |
nsv4405239 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,191,888 | 31,192,610 | 31,495,318 | 31,498,657 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15738098 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15738098 | Remapped | Perfect | NC_000006.12:g.(31 224111_31224833)_( 31527541_31530880) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,224,111 | 31,224,833 | 31,527,541 | 31,530,880 |
nssv15738098 | Submitted genomic | NC_000006.11:g.(31 191888_31192610)_( 31495318_31498657) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,191,888 | 31,192,610 | 31,495,318 | 31,498,657 |