A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076323



Internal ID18977272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84231116..84233617hg38UCSC Ensembl
chr1:84696799..84699300hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764130
SamplesKWP1
Known GenesPRKACB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076323
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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