A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2797692



Internal ID21243030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577334..23577334hg38UCSC Ensembl
chr18:21157298..21157298hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13694369, nssv13676894
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2797692
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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