A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050063



Internal ID18792594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16283793..16695080hg38UCSC Ensembl
Innerchr16:16377650..16788937hg19UCSC Ensembl
Innerchr16:16285151..16696438hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38411288
hg19411288
hg18411288
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2776n100
Supporting Variantsnssv3558029, nssv3718990
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050063
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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