A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621447



Internal ID21569752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237545073..237545073hg38UCSC Ensembl
chr2:238453716..238453716hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111945
SamplesHG00513
Known GenesMLPH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621447
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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