A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272899



Internal ID22294322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3767857..3816365hg38UCSC Ensembl
Outerchr4:3769584..3818092hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218731
Supporting Variants
SamplesNA19240
Known GenesADRA2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272899
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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