A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444736



Internal ID223105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185163198..185163295hg38UCSC Ensembl
chr3:184880986..184881083hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942569
Samples
Known GenesEHHADH-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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