A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260436



Internal ID22201775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18923488..18928989hg38UCSC Ensembl
Outerchr1:19249982..19255483hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214045
Supporting Variants
SamplesHG00732
Known GenesIFFO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260436
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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