A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439504



Internal ID218040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135237618..135244000hg38UCSC Ensembl
chr2:135995188..136001570hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg386383
hg196383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918821
Samples
Known GenesZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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