A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188025



Internal ID21326858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711870..218711870hg38UCSC Ensembl
chr2:219576593..219576593hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934323
Supporting Variants
SamplesHG002
Known GenesTTLL4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188025
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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