A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436619



Internal ID215232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208470404..208470664hg38UCSC Ensembl
chr2:209335129..209335389hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924413
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436619
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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