A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341041



Internal ID20998594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202381195..202385586hg38UCSC Ensembl
chr2:203245918..203250309hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384392
hg194392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208304
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341041
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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