A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236334



Internal ID22373548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:95013084..95026976hg38UCSC Ensembl
Outerchr13:95665338..95679230hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257699, nssv14257697, nssv14257698, nssv14257701, nssv14257700
SamplesHG00512, NA19238, HG00731, HG00732, HG00733
Known GenesABCC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236334
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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