A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507904



Internal ID284609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50713722..50713778hg38UCSC Ensembl
chr13:51287858..51287914hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687717
Samples
Known GenesDLEU7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507904
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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