A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115345



Internal ID18908627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84230017..84234217hg38UCSC Ensembl
Outerchr1:84695700..84699900hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976396
SamplesKWS2
Known GenesPRKACB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115345
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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