A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927132



Internal ID22702360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119633438..119633954hg38UCSC Ensembl
chr8:120645678..120646194hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449173
Samples
Known GenesENPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927132
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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