A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437328



Internal ID215919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070512..226077299hg38UCSC Ensembl
chr1:226258213..226265000hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg386788
hg196788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896791
Samples
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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