A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590355



Internal ID16377764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53045311..53046335hg38UCSC Ensembl
Innerchr3:53079327..53080351hg19UCSC Ensembl
Innerchr3:53054367..53055391hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8335n54
Supporting Variantsnssv963357, nssv963356, nssv963355, nssv963353, nssv963354
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590355
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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