A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440681



Internal ID219182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202291002..202291621hg38UCSC Ensembl
chr2:203155725..203156344hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922900
Samples
Known GenesNOP58, SNORD11B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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