A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934947



Internal ID22710281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68558387..68891271hg38UCSC Ensembl
chr16:68592290..68925174hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38332885
hg19332885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371442
Samples
Known GenesCDH1, CDH3, TANGO6, ZFP90
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934947
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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