A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274591



Internal ID22269972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155349163..155351152hg38UCSC Ensembl
Outerchr4:156270315..156272304hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215298
Supporting Variants
SamplesNA19239
Known GenesMAP9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274591
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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