A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718453



Internal ID15665723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200587..85201673hg38UCSC Ensembl
Innerchr1:85666270..85667356hg19UCSC Ensembl
Innerchr1:85438858..85439944hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381087
hg191087
hg181087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546707
Supporting Variants
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718453
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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