A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389987



Internal ID22447857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47710212..47710699hg38UCSC Ensembl
chr20:46338956..46339443hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955574
Supporting Variants
Samples
Known GenesSULF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389987
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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