A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494701



Internal ID271836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111116863..111123856hg38UCSC Ensembl
chr13:111769210..111776203hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg386994
hg196994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694212
Samples
Known GenesARHGEF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494701
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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