A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235626



Internal ID22373346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1610099..1635386hg38UCSC Ensembl
Outerchr19:1610098..1635385hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4060n152
Supporting Variantsnssv14263985, nssv14263987, nssv14263988, nssv14263986
SamplesHG00512, NA19239, HG00732, NA19240
Known GenesTCF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235626
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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