A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060240



Internal ID18802771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31484552..31570129hg38UCSC Ensembl
Innerchr16:31495873..31581450hg19UCSC Ensembl
Innerchr16:31403374..31488951hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3885578
hg1985578
hg1885578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3549162
Samples
Known GenesAHSP, C16orf58, SLC5A2, YBX3P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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