A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017883



Internal ID19107100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139159458..139215504hg38UCSC Ensembl
Innerchr5:138495147..138551193hg19UCSC Ensembl
Innerchr5:138523046..138579092hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3856047
hg1956047
hg1856047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648141
Samples
Known GenesSIL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017883
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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