A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713213



Internal ID15660483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54624793..54628151hg38UCSC Ensembl
Innerchr1:55090466..55093824hg19UCSC Ensembl
Innerchr1:54863054..54866412hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383359
hg193359
hg183359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546270
Supporting Variants
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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