A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259996



Internal ID22201626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88697247..88735426hg38UCSC Ensembl
Outerchr16:88763655..88801834hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384872
hg194872
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235995
Supporting Variants
SamplesHG00732
Known GenesCTU2, LOC100289580, MIR4722, PIEZO1, RNF166
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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