A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221000



Internal ID22365528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141366870..141371958hg38UCSC Ensembl
Outerchr5:140746437..140751525hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3824986
hg1924986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276336
SamplesHG00732
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGB1, PCDHGB2, PCDHGB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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