A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101531



Internal ID21476628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57678908..57678908hg38UCSC Ensembl
chr18:55346140..55346140hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5663360
Supporting Variants
SamplesHG03486
Known GenesATP8B1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101531
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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