A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574706



Internal ID16015429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32486314..32487364hg38UCSC Ensembl
Innerchr17:30813332..30814382hg19UCSC Ensembl
Innerchr17:27837445..27838495hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381051
hg191051
hg181051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv869628, nssv869627
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574706
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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