A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111292



Internal ID18916625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7741539..7741621hg38UCSC Ensembl
Outerchr5:7741652..7741734hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963359
SamplesKWS1
Known GenesADCY2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111292
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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