A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv876206



Internal ID15823476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76384705..76385756hg38UCSC Ensembl
Innerchr17:74380786..74381837hg19UCSC Ensembl
Innerchr17:71892381..71893432hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381052
hg191052
hg181052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576060
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)nssv876206
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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