A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004559



Internal ID19093777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53010456hg38UCSC Ensembl
Innerchr3:53028375..53044472hg19UCSC Ensembl
Innerchr3:53003415..53019512hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3816098
hg1916098
hg1816098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4743n100
Supporting Variantsnssv3731116
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)nsv1004559
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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