A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257580



Internal ID22191441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110247915..110260068hg38UCSC Ensembl
Outerchr13:110900262..110912415hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230546
Supporting Variants
SamplesHG00731
Known GenesCOL4A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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