A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058223



Internal ID18800754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31960187..33086089hg38UCSC Ensembl
Innerchr16:31971508..33097410hg19UCSC Ensembl
Innerchr16:31879009..33004911hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381125903
hg191125903
hg181125903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2837n100
Supporting Variantsnssv3549172
Samples
Known GenesHERC2P4, LOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058223
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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