A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943597



Internal ID22719048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80187415..81870002hg38UCSC Ensembl
chr13:80761550..82444137hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381682588
hg191682588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377885
Samples
Known GenesSPRY2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943597
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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