A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018187



Internal ID18760720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14385055..15126994hg38UCSC Ensembl
Innerchr5:14385164..15127103hg19UCSC Ensembl
Innerchr5:14438164..15180103hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38741940
hg19741940
hg18741940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745743
Samples
Known GenesANKH, FAM105A, FAM105B, LOC100130744, MIR4637, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018187
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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