A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040547



Internal ID18783078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15388065..15455900hg38UCSC Ensembl
Innerchr16:15481922..15549757hg19UCSC Ensembl
Innerchr16:15389423..15457258hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3867836
hg1967836
hg1867836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557962
Samples
Known GenesC16orf45, MPV17L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040547
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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