A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053258



Internal ID18795789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6244808..6344342hg38UCSC Ensembl
Innerchr16:6294809..6394343hg19UCSC Ensembl
Innerchr16:6234810..6334344hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3899535
hg1999535
hg1899535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557017
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)nsv1053258
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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