A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046873



Internal ID18789404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6606773..6630425hg38UCSC Ensembl
Innerchr16:6656774..6680426hg19UCSC Ensembl
Innerchr16:6596775..6620427hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3823653
hg1923653
hg1823653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557029
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)nsv1046873
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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