A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111149



Internal ID18918301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68431720..68431777hg38UCSC Ensembl
Outerchr17:66427861..66427918hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962386
SamplesKWS1
Known GenesPRKAR1A, WIPI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111149
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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