A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194880



Internal ID21333782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793391..76793391hg38UCSC Ensembl
chr14:77259734..77259734hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948800
Supporting Variants
SamplesHG002
Known GenesANGEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194880
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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