A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270516



Internal ID22292440
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217381
Supporting Variants
SamplesNA19240
Known GenesGLIS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270516
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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