A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535708



Internal ID311306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11145118..11145118hg38UCSC Ensembl
chr2:11285244..11285244hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909475
Samples
Known GenesC2orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535708
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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