A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041707



Internal ID18784238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6606773..6638066hg38UCSC Ensembl
Innerchr16:6656774..6688067hg19UCSC Ensembl
Innerchr16:6596775..6628068hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3831294
hg1931294
hg1831294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2704n100
Supporting Variantsnssv3718846, nssv3557032, nssv3557030, nssv3557031
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)nsv1041707
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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