A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003348



Internal ID19194581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:84297946..84304547hg38UCSC Ensembl
Outerchr4:85219099..85225700hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg386602
hg196602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154065
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003348
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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