A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046570



Internal ID18789101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7258394..7290761hg38UCSC Ensembl
Innerchr16:7308395..7340762hg19UCSC Ensembl
Innerchr16:7248396..7280763hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3832368
hg1932368
hg1832368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557084
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)nsv1046570
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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