A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575096



Internal ID16362505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44353854..44354963hg38UCSC Ensembl
Innerchr17:42431222..42432331hg19UCSC Ensembl
Innerchr17:39786748..39787857hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5608n54
Supporting Variantsnssv872234, nssv872233
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575096
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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