A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030117



Internal ID19119336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59291846..59341353hg38UCSC Ensembl
Innerchr5:58587672..58637179hg19UCSC Ensembl
Innerchr5:58623429..58672936hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3849508
hg1949508
hg1849508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640699
Samples
Known GenesPDE4D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030117
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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