A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078492



Internal ID19316655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31216079..31245497hg38UCSC Ensembl
chr20:29803899..29833300hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3829419
hg1929402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770065
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078492
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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