A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436978



Internal ID215581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143300468..143312839hg38UCSC Ensembl
chr2:144058037..144070408hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3812372
hg1912372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918977
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436978
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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