A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035082



Internal ID91122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48510464..48510515hg38UCSC Ensembl
chr10:49718507..49718558hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555531
Supporting Variants
Samples
Known GenesARHGAP22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001251


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