A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953059



Internal ID22728355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36928114..36928413hg38UCSC Ensembl
chr20:35556517..35556816hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392956
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953059
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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