A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014596



Internal ID18757131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187106902..187410668hg38UCSC Ensembl
Innerchr3:186824690..187128456hg19UCSC Ensembl
Innerchr3:188307384..188611150hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38303767
hg19303767
hg18303767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3738458
Samples
Known GenesMASP1, RPL39L, RTP1, RTP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014596
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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