A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448114



Internal ID226398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202416519..202422090hg38UCSC Ensembl
chr2:203281242..203286813hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385572
hg195572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927860
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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