A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190813



Internal ID22341620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109623650..109711941hg38UCSC Ensembl
Outerchr1:110166272..110254563hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3888292
hg1988292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267366, nssv14267367, nssv14267370, nssv14267368, nssv14267371, nssv14267365, nssv14267369, nssv14267372
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesAMPD2, GSTM1, GSTM2, GSTM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190813
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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