A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15200973



Internal ID21339782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16391672..16391672hg38UCSC Ensembl
chr5:16391781..16391781hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931072
Supporting Variants
SamplesHG002
Known GenesLOC101929505
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15200973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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