A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587191



Internal ID21535750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49907554..49907626hg38UCSC Ensembl
chr20:48524091..48524163hg19UCSC 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 Variantsnssv17116776
SamplesHG00512
Known GenesSPATA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587191
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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