A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451778



Internal ID229948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135324761..135328781hg38UCSC Ensembl
chr2:136082331..136086351hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384021
hg194021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918828
Samples
Known GenesZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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