A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548508



Internal ID322253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202534983..202535008hg38UCSC Ensembl
chr2:203399706..203399731hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927875
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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