A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447890



Internal ID226181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206130244..206132943hg38UCSC Ensembl
chr2:206994968..206997667hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922980
Samples
Known GenesNDUFS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447890
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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