A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076547



Internal ID19322913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75938548..75947749hg38UCSC Ensembl
chr3:75987699..75996900hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg389202
hg199202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771871
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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