A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008590



Internal ID19097807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52977725..53005251hg38UCSC Ensembl
Innerchr3:53011741..53039267hg19UCSC Ensembl
Innerchr3:52986781..53014307hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3827527
hg1927527
hg1827527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4739n100
Supporting Variantsnssv3595264
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)nsv1008590
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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