A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576038



Internal ID21524472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239068848..239068945hg38UCSC Ensembl
chr2:239990544..239990641hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112395
SamplesHG00731
Known GenesHDAC4, MIR4440
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576038
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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