A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227604



Internal ID22370048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:66593570..66637693hg38UCSC Ensembl
Outerchr13:67167702..67211825hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3844124
hg1944124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256539
SamplesHG00732
Known GenesPCDH9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227604
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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