A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9426n152



Internal ID22825129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143193282..143250012hg38UCSC Ensembl
chr8:144274699..144332182hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3856731
hg1957484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3246660, nsv3241752
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesGPIHBP1, ZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9426n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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