A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543427



Internal ID20916675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40745393..40745859hg38UCSC Ensembl
chr21:42117319..42117785hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072772
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543427
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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