A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013928



Internal ID19103147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52988921..53004916hg38UCSC Ensembl
Innerchr3:53022937..53038932hg19UCSC Ensembl
Innerchr3:52997977..53013972hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3815996
hg1915996
hg1815996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4740n100
Supporting Variantsnssv3595288, nssv3739880
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)nsv1013928
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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