A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708737



Internal ID16002693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2123276..2146433hg38UCSC Ensembl
Innerchr1:2054715..2077872hg19UCSC Ensembl
Innerchr1:2044575..2067732hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3823158
hg1923158
hg1823158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545062
Supporting Variants
Samples
Known GenesPRKCZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708737
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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