A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2729n106



Internal ID20162086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8233679..8233745hg38UCSC Ensembl
chr4:8235406..8235472hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1142384, nsv1129713
SamplesKWS1, KWS2
Known GenesSH3TC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2729n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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