A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076647



Internal ID19318533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:45927377..45945878hg38UCSC Ensembl
chr8:46838999..46857500hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3818502
hg1918502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768778
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076647
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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