A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007946



Internal ID18750477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58316064..58398731hg38UCSC Ensembl
Innerchr3:58301791..58384458hg19UCSC Ensembl
Innerchr3:58276831..58359498hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3882668
hg1982668
hg1882668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4748n100
Supporting Variantsnssv3593389
Samples
Known GenesPXK, RPP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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