A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139761



Internal ID18904948
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 StatusM
Merged Variants
Supporting Variantsnssv3978098
SamplesKWS2
Known GenesMYBL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139761
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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