A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555531



Internal ID328685
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 StatusM
Merged Variants
Supporting Variantsnssv17035082
Samples
Known GenesARHGAP22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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