A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075767



Internal ID19319239
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 StatusM
Merged Variants
Supporting Variantsnssv3767387
SamplesKWP1
Known GenesPRKCZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075767
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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