A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919225



Internal ID22694447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125293465..125293667hg38UCSC Ensembl
chr8:126305707..126305909hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430752
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919225
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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