A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539682



Internal ID20912977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46560971..46631358hg38UCSC Ensembl
chr21:47980884..48051270hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870388
hg1970387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204214
Samples
Known GenesDIP2A, S100B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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