A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396496



Internal ID175913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56008282..56008333hg38UCSC Ensembl
chr3:56042310..56042361hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934548
Samples
Known GenesERC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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