A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045440



Internal ID18787971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15184949..15455900hg38UCSC Ensembl
Innerchr16:15278806..15549757hg19UCSC Ensembl
Innerchr16:15186307..15457258hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38270952
hg19270952
hg18270952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557957
Samples
Known GenesC16orf45, MPV17L, NPIPA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045440
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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