A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3737875



Internal ID18689470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196621850..197012082hg38UCSC Ensembl
Innerchr3:196348721..196738953hg19UCSC Ensembl
Innerchr3:197833118..198223350hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38390233
hg19390233
hg18390233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003135
Supporting Variants
Samples
Known GenesCEP19, MFI2, MFI2-AS1, NCBP2, NCBP2-AS2, NRROS, PAK2, PIGX, PIGZ, SENP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3737875
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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