A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391105



Internal ID22448975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59035125..59036468hg38UCSC Ensembl
chr20:57610180..57611523hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381344
hg191344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950642
Supporting Variants
Samples
Known GenesSLMO2, SLMO2-ATP5E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391105
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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