A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570643



Internal ID21519011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44588259..44588420hg38UCSC Ensembl
chr2:44815398..44815559hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113204
SamplesHG02587
Known GenesCAMKMT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570643
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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