A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054474



Internal ID18797005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8956324..9130499hg38UCSC Ensembl
Innerchr16:9050181..9224356hg19UCSC Ensembl
Innerchr16:8957682..9131857hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38174176
hg19174176
hg18174176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2726n100
Supporting Variantsnssv3718872
Samples
Known GenesC16orf72, USP7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054474
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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