A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439032



Internal ID217580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43654447..43786467hg38UCSC Ensembl
chr2:43881586..44013606hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38132021
hg19132021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911969
Samples
Known GenesDYNC2LI1, LOC728819, PLEKHH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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