A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046180



Internal ID18788711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7057355..7073712hg38UCSC Ensembl
Innerchr16:7107356..7123713hg19UCSC Ensembl
Innerchr16:7047357..7063714hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3816358
hg1916358
hg1816358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2714n100
Supporting Variantsnssv3557072, nssv3718864, nssv3557073
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)nsv1046180
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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