A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125728



Internal ID18916726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47285950..47286019hg38UCSC Ensembl
Outerchr20:45914694..45914763hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983933
SamplesKWS2
Known GenesZMYND8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125728
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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