A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486030



Internal ID22543943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44169181..44193840hg38UCSC Ensembl
chr20:42797821..42822480hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3824660
hg1924660
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873115
Supporting Variants
Samples
Known GenesJPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486030
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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