A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379137



Internal ID22437007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21704716..21704716hg38UCSC Ensembl
chr18:19284677..19284677hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979698
Supporting Variants
Samples
Known GenesABHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379137
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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