A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467617



Internal ID245427
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 StatusM
Merged Variants
Supporting Variantsnssv16969391
Samples
Known GenesARHGAP18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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