A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535337



Internal ID310986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202545222..202545263hg38UCSC Ensembl
chr2:203409945..203409986hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927882
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535337
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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