A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077433



Internal ID18979179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9212973..9260174hg38UCSC Ensembl
chr4:9214699..9261900hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3847202
hg1947202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769576
SamplesKWP1
Known GenesUSP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077433
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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