A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078523



Internal ID19322741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128079256..128080957hg38UCSC Ensembl
chr3:127798099..127799800hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767036
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078523
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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