A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622519



Internal ID21570824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10399405..10399405hg38UCSC Ensembl
chr2:10539531..10539531hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107440
SamplesHG02818
Known GenesHPCAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622519
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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