A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575443



Internal ID16362852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46771151..46771995hg38UCSC Ensembl
Innerchr17:44848517..44849361hg19UCSC Ensembl
Innerchr17:42203685..42204524hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38845
hg19845
hg18840
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5669n54
Supporting Variantsnssv873021, nssv873022
Samples
Known GenesWNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575443
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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