A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574270



Internal ID16361679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4416311..4479434hg38UCSC Ensembl
Innerchr17:4319606..4382729hg19UCSC Ensembl
Innerchr17:4266355..4329478hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3863124
hg1963124
hg1863124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5430n54
Supporting Variantsnssv1149679
SamplesHGDP00813
Known GenesSPNS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574270
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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