A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047576



Internal ID18790107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6683287..6720475hg38UCSC Ensembl
Innerchr16:6733288..6770476hg19UCSC Ensembl
Innerchr16:6673289..6710477hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3837189
hg1937189
hg1837189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2706n100
Supporting Variantsnssv3557048, nssv3557049
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)nsv1047576
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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