A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987369



Internal ID18874242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23843677..23846377hg38UCSC Ensembl
Outerchr4:23845300..23848000hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132585
Supporting Variants
SamplesKWS1
Known GenesPPARGC1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987369
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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