A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279973



Internal ID22262995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144540716..144541851hg38UCSC Ensembl
Outerchr8:145766100..145767235hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246561
Supporting Variants
SamplesNA19238
Known GenesARHGAP39
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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