A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555386



Internal ID328543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45028088..45028125hg38UCSC Ensembl
chr13:45602223..45602260hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687379
Samples
Known GenesGPALPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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