A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527031



Internal ID303139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68215942..68235108hg38UCSC Ensembl
chr16:68249845..68269011hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3819167
hg1919167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707555
Samples
Known GenesESRP2, MIR6773, NFATC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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