A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230562



Internal ID20797602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44044544..44045276hg38UCSC Ensembl
chr6:44012281..44013013hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409941
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230562
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.99318


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