A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050276



Internal ID18792807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10765..207261hg38UCSC Ensembl
Innerchr16:60765..257260hg19UCSC Ensembl
Innerchr16:765..197261hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38196497
hg19196496
hg18196497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2690n100
Supporting Variantsnssv3556938
Samples
Known GenesDDX11L10, HBA1, HBA2, HBM, HBQ1, HBZ, LOC100288778, LUC7L, MIR6859-1, MIR6859-2, MPG, NPRL3, POLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050276
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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