A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4388915



Internal ID21380050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125293466..125293668hg38UCSC Ensembl
chr8:126305708..126305910hg19UCSC 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 Variantsnssv15704531
Samples
Known GenesNSMCE2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4388915
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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