A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574698



Internal ID16015421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32485827..32489392hg38UCSC Ensembl
Innerchr17:30812845..30816410hg19UCSC Ensembl
Innerchr17:27836958..27840523hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383566
hg193566
hg183566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv869608
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574698
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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