A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022160



Internal ID19111378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59349979..59393184hg38UCSC Ensembl
Innerchr5:58645805..58689010hg19UCSC Ensembl
Innerchr5:58681562..58724767hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3843206
hg1943206
hg1843206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5682n100
Supporting Variantsnssv3640704, nssv3640703, nssv3640702
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)nsv1022160
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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