A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513317



Internal ID289846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46232316..46407940hg38UCSC Ensembl
chr13:46806451..46982075hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38175625
hg19175625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687465
Samples
Known GenesKIAA0226L, LINC00563, LRRC63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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