A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009193



Internal ID18751724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46474327..46619995hg38UCSC Ensembl
Innerchr1:46939999..47085667hg19UCSC Ensembl
Innerchr1:46712586..46858254hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38145669
hg19145669
hg18145669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3482658
Samples
Known GenesDMBX1, KNCN, MKNK1, MKNK1-AS1, MOB3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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