A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2752n152



Internal ID22818455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100933829..100978906hg38UCSC Ensembl
chr14:101400166..101445243hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3845078
hg1945078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3249151, nsv3237706
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesSNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2752n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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