A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547469



Internal ID20920670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39745352..39746408hg38UCSC Ensembl
chr21:41117279..41118335hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072436
Samples
Known GenesIGSF5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547469
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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