A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052975



Internal ID18795506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20327288..20411678hg38UCSC Ensembl
Innerchr16:20338610..20423000hg19UCSC Ensembl
Innerchr16:20246111..20330501hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3884391
hg1984391
hg1884391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2795n100
Supporting Variantsnssv3547112
Samples
Known GenesACSM5, GP2, PDILT, UMOD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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