A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256202



Internal ID22284228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6350085..6363466hg38UCSC Ensembl
Outerchr12:6459251..6472632hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231706
Supporting Variants
SamplesNA19239
Known GenesSCNN1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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