A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497578



Internal ID274608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87970174..87970237hg38UCSC Ensembl
chr14:88436518..88436581hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697619
Samples
Known GenesGALC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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