A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435216



Internal ID213869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206750328..206750380hg38UCSC Ensembl
chr2:207615052..207615104hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923026
Samples
Known GenesMDH1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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