A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6687n152



Internal ID22822390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73258512..73272426hg38UCSC Ensembl
chr4:74124229..74138143hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3813915
hg1913915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216935, nsv3211260
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANKRD17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6687n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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