A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031160



Internal ID18773693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42609988..42843153hg38UCSC Ensembl
Innerchr5:42610090..42843255hg19UCSC Ensembl
Innerchr5:42645847..42879012hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38233166
hg19233166
hg18233166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5637n100
Supporting Variantsnssv3637105
Samples
Known GenesCCDC152, GHR, SEPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031160
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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