A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950673



Internal ID22726068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45470531..45479939hg38UCSC Ensembl
chr20:44099171..44108579hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389409
hg199409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394562
Samples
Known GenesWFDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950673
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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