A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713369



Internal ID137035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45416130..45426741hg38UCSC Ensembl
chr17:43493496..43504107hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810612
hg1910612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526318
Supporting Variants
Samples
Known GenesARHGAP27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713369
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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