A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227482



Internal ID20794522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7725801..7729100hg38UCSC Ensembl
chr6:7726034..7729333hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415457
Supporting Variants
Samples
Known GenesBMP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227482
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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