A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523594



Internal ID21847953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202545215..202545215hg38UCSC Ensembl
chr2:203409938..203409938hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6043966
Supporting Variants
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523594
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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