A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572236



Internal ID21520622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181578466..181580409hg38UCSC Ensembl
chr2:182443193..182445136hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110763
SamplesHG03125
Known GenesCERKL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572236
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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