A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1657n106



Internal ID19019766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79200703..79200779hg38UCSC Ensembl
chr18:76960703..76960779hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129612, nsv1117205
SamplesKWS1, KWS2
Known GenesATP9B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1657n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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