A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518217



Internal ID294614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56225579..56239994hg38UCSC Ensembl
chr15:56517777..56532192hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3814416
hg1914416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699851
Samples
Known GenesRFX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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