A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449638



Internal ID227870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159444258..159444351hg38UCSC Ensembl
chr2:160300769..160300862hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921333
Samples
Known GenesBAZ2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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