A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571274



Internal ID16011997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4309420..4441189hg38UCSC Ensembl
Innerchr16:4359421..4491190hg19UCSC Ensembl
Innerchr16:4299422..4431191hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38131770
hg19131770
hg18131770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852301
Samples
Known GenesCORO7, CORO7-PAM16, DNAJA3, GLIS2, PAM16, VASN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571274
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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