A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579240



Internal ID21527717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165251575..165251830hg38UCSC Ensembl
chr4:166172727..166172982hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131036
SamplesHG03125
Known GenesKLHL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579240
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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