A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575248



Internal ID16015971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46193055..46289299hg38UCSC Ensembl
Innerchr17:44270421..44366665hg19UCSC Ensembl
Innerchr17:41626198..41722442hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896245
hg1996245
hg1896245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5637n54
Supporting Variantsnssv872522
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575248
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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