A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014526



Internal ID19103744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196645551..196733298hg38UCSC Ensembl
Innerchr3:196372422..196460169hg19UCSC Ensembl
Innerchr3:197856819..197944566hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3887748
hg1987748
hg1887748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737876
Samples
Known GenesCEP19, NRROS, PIGX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014526
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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