A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020157



Internal ID19109376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32116508..32158337hg38UCSC Ensembl
Innerchr5:32116614..32158443hg19UCSC Ensembl
Innerchr5:32152371..32194200hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3841830
hg1941830
hg1841830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5624n100
Supporting Variantsnssv3745960, nssv3637041, nssv3637037, nssv3637040, nssv3637044, nssv3637043, nssv3637042, nssv3637039, nssv3637036, nssv3637038
Samples
Known GenesGOLPH3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020157
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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