A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574238



Internal ID21522651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43857558..43859499hg38UCSC Ensembl
chr2:44084697..44086638hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114279
SamplesNA20847
Known GenesABCG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574238
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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