A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047485



Internal ID18790016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18920257..19049815hg38UCSC Ensembl
Innerchr16:18931579..19061137hg19UCSC Ensembl
Innerchr16:18839080..18968638hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38129559
hg19129559
hg18129559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3542769
Samples
Known GenesSMG1, TMC7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047485
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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