A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955543



Internal ID22730744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57661412..57661486hg38UCSC Ensembl
chr20:56236468..56236542hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408778
Samples
Known GenesPMEPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955543
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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