A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544182



Internal ID20917421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42953501..43086500hg38UCSC Ensembl
chr21:44373611..44506610hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38133000
hg19133000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204103
Samples
Known GenesCBS, PKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544182
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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