A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978098



Internal ID18885177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43699360..43701260hg38UCSC Ensembl
Outerchr20:42328000..42329900hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139761
Supporting Variants
SamplesKWS2
Known GenesMYBL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978098
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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