A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043020



Internal ID18785551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6253801..6603812hg38UCSC Ensembl
Innerchr16:6303802..6653813hg19UCSC Ensembl
Innerchr16:6243803..6593814hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38350012
hg19350012
hg18350012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2703n100
Supporting Variantsnssv3557019, nssv3557018
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043020
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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