A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257699



Internal ID22200865
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236334
Supporting Variants
SamplesHG00732
Known GenesABCC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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