A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv876208



Internal ID15823478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76384705..76386111hg38UCSC Ensembl
Innerchr17:74380786..74382192hg19UCSC Ensembl
Innerchr17:71892381..71893787hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381407
hg191407
hg181407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576061
Supporting Variants
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv876208
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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