A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595287



Internal ID18893568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52988896..53005649hg38UCSC Ensembl
Innerchr3:53022912..53039665hg19UCSC Ensembl
Innerchr3:52997952..53014705hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3816754
hg1916754
hg1816754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011388
Supporting Variants
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595287
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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