A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6102750



Internal ID22011984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577367..23577367hg38UCSC Ensembl
chr18:21157331..21157331hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17623946
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6102750
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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