A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015251



Internal ID18757785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172166251..172261560hg38UCSC Ensembl
Innerchr5:171593255..171688564hg19UCSC Ensembl
Innerchr5:171525860..171621169hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3895310
hg1995310
hg1895310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649128
Samples
Known GenesEFCAB9, STK10, UBTD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015251
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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