A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607690



Internal ID17307783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:77755038..77755075hg38UCSC Ensembl
Outerchr16:77788935..77788972hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv930499
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of MIER1 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607690
Frequency
Sample Size946
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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