A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118713



Internal ID18904314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9233274..9270774hg38UCSC Ensembl
Outerchr4:9235000..9272500hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3837501
hg1937501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959607
SamplesKWS1
Known GenesUSP17L11, USP17L12, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118713
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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