A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434092



Internal ID22491962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119085588..119085588hg38UCSC Ensembl
chr8:120097827..120097827hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952940
Supporting Variants
Samples
Known GenesCOLEC10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434092
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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