A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869325



Internal ID22644260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31049098..31049273hg38UCSC Ensembl
chr1:31521945..31522120hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350039
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869325
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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