A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573933



Internal ID16361342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:191293..286907hg38UCSC Ensembl
Innerchr17:41084..136698hg19UCSC Ensembl
Innerchr17:41084..136698hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3895615
hg1995615
hg1895615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv864367
Samples
Known GenesRPH3AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573933
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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