A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15704531



Internal ID21376807
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 StatusS
Merged Variantsnsv4388915
Supporting Variants
Samples
Known GenesNSMCE2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15704531
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0316092


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