A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976430



Internal ID19239871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228608553..228646753hg38UCSC Ensembl
Outerchr1:228744300..228782500hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3838201
hg1938201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115380
Supporting Variants
SamplesKWS2
Known GenesDUSP5P1, RHOU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976430
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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