A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186994



Internal ID21325824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49702007..49702007hg38UCSC Ensembl
chr19:50205264..50205264hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3930819
Supporting Variants
SamplesHG002
Known GenesCPT1C
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186994
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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