A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280116



Internal ID22139967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12499631..12521176hg38UCSC Ensembl
Outerchr10:12541630..12563175hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3821546
hg1921546
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221362
Supporting Variants
SamplesHG00513
Known GenesCAMK1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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