A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556927



Internal ID330046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143253224..143253260hg38UCSC Ensembl
chr2:144010793..144010829hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918973
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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