A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451599



Internal ID229777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26039323..26042657hg38UCSC Ensembl
chr2:26262192..26265526hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911253
Samples
Known GenesRAB10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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