A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152791



Internal ID19198890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148612036..148615537hg38UCSC Ensembl
Outerchr5:147991599..147995100hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997827
SamplesKWB1
Known GenesHTR4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152791
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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