A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001029



Internal ID19194560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49519182..49566483hg38UCSC Ensembl
Outerchr4:49521199..49568500hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3847302
hg1947302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149730
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001029
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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