A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217381



Internal ID22363058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53716944..53747953hg38UCSC Ensembl
Outerchr1:54182617..54213626hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3833929
hg1933929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270516
SamplesNA19240
Known GenesGLIS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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