A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575800



Internal ID16016523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58344345..58432504hg38UCSC Ensembl
Innerchr17:56421706..56509865hg19UCSC Ensembl
Innerchr17:53776705..53864864hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3888160
hg1988160
hg1888160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875645
Samples
Known GenesBZRAP1-AS1, HSF5, RNF43, SUPT4H1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575800
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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