A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192983



Internal ID21331871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79624943..79624943hg38UCSC Ensembl
chr13:80199078..80199078hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926036
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192983
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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