A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547439



Internal ID20920640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40400547..40422552hg38UCSC Ensembl
chr21:41772474..41794479hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3822006
hg1922006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203970
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547439
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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