A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561491



Internal ID334470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24595804..24953333hg38UCSC Ensembl
chr13:25169942..25527471hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38357530
hg19357530
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686262
Samples
Known GenesATP12A, CENPJ, RNF17, TPTE2P1, TPTE2P6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561491
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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