A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277600



Internal ID22183623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177585332..177598980hg38UCSC Ensembl
Outerchr5:177012333..177025981hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218623
Supporting Variants
SamplesHG00731
Known GenesTMED9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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