A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879040



Internal ID22654007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245786788..246074460hg38UCSC Ensembl
chr1:245950090..246237762hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38287673
hg19287673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356628
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879040
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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