A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595294



Internal ID18893575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52989183..53003226hg38UCSC Ensembl
Innerchr3:53023199..53037242hg19UCSC Ensembl
Innerchr3:52998239..53012282hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3814044
hg1914044
hg1814044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012396
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)nssv3595294
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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