A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143135



Internal ID19257063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56135360..56166158hg38UCSC Ensembl
Outerchr5:55431187..55461985hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3830799
hg1930799
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979894
SamplesKWS2
Known GenesANKRD55
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143135
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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