A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539491



Internal ID20912786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39304014..39321395hg38UCSC Ensembl
chr21:40675940..40693321hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3817382
hg1917382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203958
Samples
Known GenesBRWD1, BRWD1-AS1, BRWD1-IT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539491
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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