A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115671



Internal ID19248893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53563833..53569933hg38UCSC Ensembl
Outerchr4:54430000..54436100hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977480
SamplesKWS2
Known GenesLNX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115671
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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