A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273205



Internal ID22312148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:545064..569896hg38UCSC Ensembl
Outerchr4:538853..563685hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215911
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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