A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435867



Internal ID214497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38941789..38942389hg38UCSC Ensembl
chr2:39168930..39169530hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912505
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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