A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224764



Internal ID22368096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203504638..203533596hg38UCSC Ensembl
Outerchr1:203473766..203502724hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265285, nssv14265284
SamplesNA19238, NA19239
Known GenesOPTC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224764
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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