A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619515



Internal ID21567820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239141604..239141604hg38UCSC Ensembl
chr2:240063300..240063300hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112410
SamplesHG02587
Known GenesHDAC4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619515
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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