A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235956



Internal ID22373446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55262376..55273432hg38UCSC Ensembl
Outerchr19:55773744..55784800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263440, nssv14263441, nssv14263439, nssv14263438
SamplesNA19238, NA19240, HG00733, HG00514
Known GenesHSPBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235956
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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