A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954610



Internal ID22729845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117920279..117920279hg38UCSC Ensembl
chr8:118932518..118932518hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436801
Samples
Known GenesEXT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954610
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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