A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204973



Internal ID21343775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121782050..121782050hg38UCSC Ensembl
chr8:122794290..122794290hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943200
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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