A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345680



Internal ID21003233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202447178..202461354hg38UCSC Ensembl
chr2:203311901..203326077hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3814177
hg1914177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208309
Samples
Known GenesBMPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345680
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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