A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404571



Internal ID183922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11761298..11761349hg38UCSC Ensembl
chr8:11618807..11618858hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008316
Samples
Known GenesC8orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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