A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009975



Internal ID18752506
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 StatusM
Merged Variants
Supporting Variantsnssv3616998
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)nsv1009975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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