A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440339



Internal ID218848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230897874..230899722hg38UCSC Ensembl
chr2:231762589..231764437hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381849
hg191849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925794
Samples
Known GenesLOC151484
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440339
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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