A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118715



Internal ID19279807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49238583..49301783hg38UCSC Ensembl
Outerchr4:49240600..49303800hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3863201
hg1963201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959609
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118715
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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