A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575524



Internal ID16016247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50898871..51006167hg38UCSC Ensembl
Innerchr17:48976232..49083528hg19UCSC Ensembl
Innerchr17:46331231..46438527hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38107297
hg19107297
hg18107297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149767
Samples1780854328_A
Known GenesSPAG9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575524
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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