A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969391



Internal ID46913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129629043..129636630hg38UCSC Ensembl
chr6:129950188..129957775hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg387588
hg197588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467617
Supporting Variants
Samples
Known GenesARHGAP18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969391
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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