A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1373n106



Internal ID22795201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84648394..84648894hg38UCSC Ensembl
chr16:84682000..84682500hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1131117, nsv1118362
SamplesKWS2, KWS1
Known GenesKLHL36
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1373n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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