A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041143



Internal ID18783674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18870180..19108367hg38UCSC Ensembl
Innerchr16:18881502..19119689hg19UCSC Ensembl
Innerchr16:18789003..19027190hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38238188
hg19238188
hg18238188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2787n100
Supporting Variantsnssv3542768
Samples
Known GenesCOQ7, SMG1, TMC7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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