A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649164



Internal ID21597469
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 StatusM
Merged Variants
Supporting Variantsnssv17101068
SamplesHG00731
Known GenesNPC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649164
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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