A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256203



Internal ID22255527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6353279..6388400hg38UCSC Ensembl
Outerchr12:6462445..6497566hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382241
hg192241
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242177
Supporting Variants
SamplesNA19238
Known GenesLTBR, SCNN1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256203
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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