A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216015



Internal ID22362150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:163303744..163323304hg38UCSC Ensembl
Outerchr4:164224896..164244456hg19UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274606, nssv14273070, nssv14274605, nssv14274608, nssv14274607, nssv14273071
SamplesHG00512, NA19238, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216015
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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