A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469945



Internal ID247719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130144683..130145196hg38UCSC Ensembl
chr6:130465828..130466341hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969426
Samples
Known GenesSAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469945
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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