A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004368



Internal ID19093586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52987041..53005649hg38UCSC Ensembl
Innerchr3:53021057..53039665hg19UCSC Ensembl
Innerchr3:52996097..53014705hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3818609
hg1918609
hg1818609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4740n100
Supporting Variantsnssv3595275, nssv3595273, nssv3595274
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)nsv1004368
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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