A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444253



Internal ID222632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9421817..9422063hg38UCSC Ensembl
chr3:9463501..9463747hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930805
Samples
Known GenesSETD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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