A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275690



Internal ID22262672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7460277..7489147hg38UCSC Ensembl
Outerchr5:7460390..7489260hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381653
hg191653
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229448
Supporting Variants
SamplesNA19238
Known GenesADCY2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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