A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256222



Internal ID22200433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128465675..128484153hg38UCSC Ensembl
Outerchr12:128950220..128968698hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241411
Supporting Variants
SamplesHG00732
Known GenesTMEM132C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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