A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392577



Internal ID21383607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49907555..49907627hg38UCSC Ensembl
chr20:48524092..48524164hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706555
Samples
Known GenesSPATA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4392577
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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