A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256443



Internal ID22117990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121735007..121768026hg38UCSC Ensembl
Outerchr12:122172913..122205932hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245931
Supporting Variants
SamplesHG00512
Known GenesTMEM120B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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