A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000733



Internal ID19089950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52997708..53019629hg38UCSC Ensembl
Innerchr3:53031724..53053645hg19UCSC Ensembl
Innerchr3:53006764..53028685hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3821922
hg1921922
hg1821922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593364
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)nsv1000733
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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