A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447119



Internal ID225431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230232129..230289748hg38UCSC Ensembl
chr1:230367875..230425494hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3857620
hg1957620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898539
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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