A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186542



Internal ID21325361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753337..46753337hg38UCSC Ensembl
chr19:47256594..47256594hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929089
Supporting Variants
SamplesHG002
Known GenesFKRP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186542
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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