A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545045



Internal ID16332454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2109497..2158087hg38UCSC Ensembl
Innerchr1:2040936..2089526hg19UCSC Ensembl
Innerchr1:2030796..2079386hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3848591
hg1948591
hg1848591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172578
SamplesNINDS_69
Known GenesPRKCZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545045
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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