A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010620



Internal ID74708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37867477..37867477hg38UCSC Ensembl
chr8:37724995..37724995hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540654
Supporting Variants
Samples
Known GenesRAB11FIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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