A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2399n106



Internal ID20161756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43550483..43553433hg38UCSC Ensembl
chr21:44970364..44973314hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382951
hg192951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120792, nsv1130446, nsv1145357
SamplesKWS1, KWS2
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2399n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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