A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239303



Internal ID22374385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43508160..43540014hg38UCSC Ensembl
Outerchr19:44012312..44044166hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381179
hg191179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264740, nssv14264739, nssv14264251, nssv14264741, nssv14264738, nssv14264737
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known GenesETHE1, ZNF575
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239303
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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