A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916790



Internal ID22692009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98074494..98104805hg38UCSC Ensembl
chr8:99086722..99117033hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3830312
hg1930312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445470
Samples
Known GenesC8orf47, HRSP12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916790
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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