A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3484321



Internal ID19071962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245957214..246385640hg38UCSC Ensembl
Innerchr1:246120516..246548942hg19UCSC Ensembl
Innerchr1:244187139..244615565hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38428427
hg19428427
hg18428427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001139
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3484321
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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