A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045019



Internal ID18787550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18924787..19245673hg38UCSC Ensembl
Innerchr16:18936109..19256995hg19UCSC Ensembl
Innerchr16:18843610..19164496hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38320887
hg19320887
hg18320887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3542770
Samples
Known GenesCOQ7, ITPRIPL2, SMG1, SYT17, TMC7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045019
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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