A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436059



Internal ID214684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196808319..196808403hg38UCSC Ensembl
chr2:197673043..197673127hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922147
Samples
Known GenesC2orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436059
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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