A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553907



Internal ID327108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143158882..143158882hg38UCSC Ensembl
chr2:143916451..143916451hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918968
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553907
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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