A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118712



Internal ID18916964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9212974..9223574hg38UCSC Ensembl
Outerchr4:9214700..9225300hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810601
hg1910601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959606
SamplesKWS1
Known GenesUSP17L11, USP17L12, USP17L18, USP17L20, USP17L21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118712
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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