nsv4398959
- 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:500,234
- DGV: gssvL118819
- dbVar: essv5417337
- dbVar: essv5448280
- dbVar: essv5456654
- dbVar: essv5459583
- dbVar: essv5459587
- dbVar: essv5462249
- dbVar: essv5508369
- dbVar: essv5516022
- dbVar: essv5519842
- dbVar: essv5534742
- dbVar: essv5535984
- dbVar: essv5549674
- dbVar: essv5549966
- dbVar: essv5555942
- dbVar: essv5557137
- dbVar: essv5572843
- dbVar: essv5594750
- dbVar: essv5624786
- dbVar: essv5626300
- dbVar: essv5633349
- dbVar: essv5655540
- dbVar: essv5661209
- dbVar: essv5722412
- dbVar: essv5726014
- dbVar: essv5731896
- dbVar: essv5734652
- dbVar: essv5763969
- dbVar: essv5777843
- dbVar: essv5802274
- dbVar: essv5841029
- dbVar: essv5846160
- dbVar: essv5863495
- dbVar: essv5889428
- dbVar: essv5897032
- dbVar: essv5907722
- dbVar: essv5912425
- dbVar: essv5916805
- dbVar: essv5924085
- dbVar: essv5936644
- dbVar: essv5946759
- dbVar: essv5962547
- dbVar: essv6009562
- dbVar: essv6017238
- dbVar: essv6027006
- dbVar: essv6027977
- dbVar: essv6043503
- dbVar: essv6049251
- dbVar: essv6071038
- dbVar: essv6079311
- dbVar: essv6084269
- dbVar: essv6090860
- dbVar: essv6128909
- dbVar: essv6131720
- dbVar: essv6142563
- dbVar: essv6171066
- dbVar: essv6191061
- dbVar: essv6198589
- dbVar: essv6199617
- dbVar: essv6235239
- dbVar: essv6254141
- dbVar: essv6294007
- dbVar: essv6326650
- dbVar: essv6337003
- dbVar: essv6340453
- dbVar: essv6346771
- dbVar: essv6363165
- dbVar: essv6371764
- dbVar: essv6386291
- dbVar: essv6390550
- dbVar: essv6394423
- dbVar: essv6406786
- dbVar: essv6414768
- dbVar: essv6420733
- dbVar: essv6441505
- dbVar: essv6447426
- dbVar: essv6488029
- dbVar: essv6497785
- dbVar: essv6504695
- dbVar: essv6507483
- dbVar: essv6510092
- dbVar: essv6518714
- dbVar: essv6531247
- dbVar: essv6593141
- dbVar: essv6596153
- dbVar: essv6598231
- dbVar: essv6743404
- dbVar: essv6762841
- dbVar: essv6763853
- dbVar: essv6771151
- dbVar: essv6828431
- dbVar: essv6837773
- dbVar: essv6890721
- dbVar: essv6911664
- dbVar: essv6948159
- dbVar: essv6952260
- 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: 1699 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1699 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4398959 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 128,499,440 | 128,499,440 | 128,999,673 | 128,999,673 |
nsv4398959 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 128,139,494 | 128,139,569 | 128,639,670 | 128,639,727 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15741200 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15741200 | Remapped | Perfect | NC_000007.14:g.(12 8499440_128499440) _(128999673_128999 673)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 128,499,440 | 128,499,440 | 128,999,673 | 128,999,673 |
nssv15741200 | Submitted genomic | NC_000007.13:g.(12 8139494_128139569) _(128639670_128639 727)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 128,139,494 | 128,139,569 | 128,639,670 | 128,639,727 |