A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052752



Internal ID18795283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6497043..7002773hg38UCSC Ensembl
Innerchr16:6547044..7052774hg19UCSC Ensembl
Innerchr16:6487045..6992775hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38505731
hg19505731
hg18505731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3718843
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)nsv1052752
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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