A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440448



Internal ID22498318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86524853..86524853hg38UCSC Ensembl
chr8:87537081..87537081hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951379
Supporting Variants
Samples
Known GenesCPNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440448
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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