A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439017



Internal ID217565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235445732..235449153hg38UCSC Ensembl
chr1:235609047..235612468hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg383422
hg193422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896588
Samples
Known GenesB3GALNT2, TBCE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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