A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998075



Internal ID18810925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12594137..12764624hg38UCSC Ensembl
Innerchr3:12635636..12806123hg19UCSC Ensembl
Innerchr3:12610636..12781123hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38170488
hg19170488
hg18170488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4686n100
Supporting Variantsnssv3593079
Samples
Known GenesRAF1, TMEM40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998075
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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