A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997627



Internal ID18810477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243756471..243835172hg38UCSC Ensembl
Innerchr1:243919773..243998474hg19UCSC Ensembl
Innerchr1:241986396..242065097hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3878702
hg1978702
hg1878702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485390
Samples
Known GenesAKT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997627
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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