A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048305



Internal ID18790836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7178539..7197060hg38UCSC Ensembl
Innerchr16:7228540..7247061hg19UCSC Ensembl
Innerchr16:7168541..7187062hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3818522
hg1918522
hg1818522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2717n100
Supporting Variantsnssv3557081
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)nsv1048305
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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