A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201054



Internal ID21339854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118864064..118864064hg38UCSC Ensembl
chr5:118199759..118199759hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947174
Supporting Variants
SamplesHG002
Known GenesDTWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201054
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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