A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1915n106



Internal ID20161272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54466341..54466607hg38UCSC Ensembl
chr2:54693478..54693744hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136029, nsv1126589
SamplesKWS1
Known GenesSPTBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1915n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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