A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570514



Internal ID21518881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239959643..239959703hg38UCSC Ensembl
chr2:240899060..240899120hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112439
SamplesHG02011
Known GenesNDUFA10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570514
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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