A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438507



Internal ID217070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57638004..57638578hg38UCSC Ensembl
chr3:57623731..57624305hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934857
Samples
Known GenesDENND6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438507
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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