A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3616998



Internal ID18568593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196680410..196822871hg38UCSC Ensembl
Innerchr3:196407281..196549742hg19UCSC Ensembl
Innerchr3:197891678..198034139hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38142462
hg19142462
hg18142462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009975
Supporting Variants
Samples
Known GenesCEP19, PAK2, PIGX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3616998
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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