A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443797



Internal ID222187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239346977..239347092hg38UCSC Ensembl
chr2:240268672..240268787hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928761
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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