A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147485



Internal ID18850841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9212973..9269774hg38UCSC Ensembl
Outerchr4:9214699..9271500hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3856802
hg1956802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000262
SamplesKWB1
Known GenesUSP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147485
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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