A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111146



Internal ID21463031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202534994..202534994hg38UCSC Ensembl
chr2:203399717..203399717hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618291
Supporting Variants
SamplesHG03009
Known GenesBMPR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111146
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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