A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124833



Internal ID19256814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:30301424..30419224hg38UCSC Ensembl
Outerchr20:29536100..29653900hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38117801
hg19117801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976887
SamplesKWS2
Known GenesFRG1B, MLLT10P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124833
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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