A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2505n152



Internal ID22818208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113793684..113843889hg38UCSC Ensembl
chr13:114496657..114546862hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3850206
hg1950206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3249669, nsv3239188
SamplesHG00512, NA19239, HG00731, HG00732, NA19240
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2505n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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