A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002460



Internal ID19091677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192214698..192226294hg38UCSC Ensembl
Innerchr3:191932487..191944083hg19UCSC Ensembl
Innerchr3:193415181..193426777hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3811597
hg1911597
hg1811597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5009n100
Supporting Variantsnssv3611348, nssv3611349
Samples
Known GenesFGF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002460
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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