A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229448



Internal ID22371299
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275691, nssv14275690
SamplesNA19238, NA19240
Known GenesADCY2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229448
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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