A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317583



Internal ID20850670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231387414..231388665hg38UCSC Ensembl
chr1:231523160..231524411hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059401
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317583
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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