A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504947



Internal ID281739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91249958..91252055hg38UCSC Ensembl
chr13:91902212..91904309hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n206
Supporting Variantsnssv17694392
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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