A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021356



Internal ID18763890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147724064..147930968hg38UCSC Ensembl
Innerchr5:147103627..147310531hg19UCSC Ensembl
Innerchr5:147083820..147290724hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38206905
hg19206905
hg18206905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648160
Samples
Known GenesC5orf46, JAKMIP2, SCGB3A2, SPINK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021356
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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