A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228473



Internal ID20795513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55845702..55971643hg38UCSC Ensembl
chr6:55710500..55836441hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38125942
hg19125942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400413
Supporting Variants
Samples
Known GenesBMP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228473
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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