A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017416



Internal ID18759950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64584494..64716803hg38UCSC Ensembl
Innerchr5:63880321..64012630hg19UCSC Ensembl
Innerchr5:63916077..64048386hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38132310
hg19132310
hg18132310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5692n100
Supporting Variantsnssv3640789
Samples
Known GenesFAM159B, RGS7BP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017416
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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