A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767626



Internal ID20543486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577336..23577336hg38UCSC Ensembl
chr18:21157300..21157300hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274573
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767626
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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