A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101068



Internal ID21429037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577367..23577367hg38UCSC Ensembl
chr18:21157331..21157331hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649164
Supporting Variants
SamplesHG00731
Known GenesNPC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101068
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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