A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440057



Internal ID218580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231789946..231790013hg38UCSC Ensembl
chr2:232654656..232654723hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925079
Samples
Known GenesCOPS7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440057
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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