A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197845



Internal ID22347672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:165067938..165084312hg38UCSC Ensembl
Outerchr4:165989090..166005464hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3816375
hg1916375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273733, nssv14273736, nssv14273732, nssv14273737, nssv14273740, nssv14273739, nssv14273735, nssv14273738, nssv14273734
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM192
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197845
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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