A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998445



Internal ID19157981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52974130..52989183hg38UCSC Ensembl
Innerchr3:53008146..53023199hg19UCSC Ensembl
Innerchr3:52983186..52998239hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3815054
hg1915054
hg1815054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595261
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)nsv998445
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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