A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234808



Internal ID22373126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71408427..71437289hg38UCSC Ensembl
Outerchr10:73168184..73197046hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253433, nssv14253432
SamplesHG00732, HG00513
Known GenesCDH23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234808
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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