A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011794



Internal ID18754328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198055478..198190963hg38UCSC Ensembl
Innerchr1:198024608..198160093hg19UCSC Ensembl
Innerchr1:196291231..196426716hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38135486
hg19135486
hg18135486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705490
Samples
Known GenesNEK7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011794
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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