A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050914



Internal ID18793445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7064679..7170251hg38UCSC Ensembl
Innerchr16:7114680..7220252hg19UCSC Ensembl
Innerchr16:7054681..7160253hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38105573
hg19105573
hg18105573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557074
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)nsv1050914
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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