A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951745



Internal ID22727098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57698696..57698791hg38UCSC Ensembl
chr20:56273752..56273847hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396568
Samples
Known GenesPMEPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951745
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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