A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv876189



Internal ID15823459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76382820..76385653hg38UCSC Ensembl
Innerchr17:74378901..74381734hg19UCSC Ensembl
Innerchr17:71890496..71893329hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382834
hg192834
hg182834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576055
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)nssv876189
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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