A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192344



Internal ID21331218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120328680..120328680hg38UCSC Ensembl
chr11:120199389..120199389hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933173
Supporting Variants
SamplesHG002
Known GenesTMEM136
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192344
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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