A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010479



Internal ID18753010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243494728..243515087hg38UCSC Ensembl
Innerchr1:243658030..243678389hg19UCSC Ensembl
Innerchr1:241724653..241745012hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3820360
hg1920360
hg1820360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490183
Samples
Known GenesAKT3, SDCCAG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010479
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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