A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873762



Internal ID22648710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64228157..64231716hg38UCSC Ensembl
chr1:64693840..64697399hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381846
Samples
Known GenesUBE2U
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873762
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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