A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053518



Internal ID18796049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7162338..7193774hg38UCSC Ensembl
Innerchr16:7212339..7243775hg19UCSC Ensembl
Innerchr16:7152340..7183776hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3831437
hg1931437
hg1831437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2716n100
Supporting Variantsnssv3557079
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)nsv1053518
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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