A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055044



Internal ID18797575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6821939..6904273hg38UCSC Ensembl
Innerchr16:6871940..6954274hg19UCSC Ensembl
Innerchr16:6811941..6894275hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3882335
hg1982335
hg1882335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2711n100
Supporting Variantsnssv3718855, nssv3557061, nssv3557060
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)nsv1055044
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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