A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185579



Internal ID21324386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48179827..48179827hg38UCSC Ensembl
chr18:45706198..45706198hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943913
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185579
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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