A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254716



Internal ID22199892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73238182..73254657hg38UCSC Ensembl
Outerchr11:72949227..72965702hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231404
Supporting Variants
SamplesHG00732
Known GenesP2RY2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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