A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767387



Internal ID19308554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2146160..2148561hg38UCSC Ensembl
chr1:2077599..2080000hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075767
Supporting Variants
SamplesKWP1
Known GenesPRKCZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767387
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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