A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185941



Internal ID21324755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31940584..31940584hg38UCSC Ensembl
chr18:29520547..29520547hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932393
Supporting Variants
SamplesHG002
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185941
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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