A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044142



Internal ID18786673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10765..255644hg38UCSC Ensembl
Innerchr16:60765..305643hg19UCSC Ensembl
Innerchr16:765..245644hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244880
hg19244879
hg18244880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3556939
Samples
Known GenesDDX11L10, HBA1, HBA2, HBM, HBQ1, HBZ, ITFG3, 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)nsv1044142
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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