A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376201



Internal ID22295378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793391..76793391hg38UCSC Ensembl
chr14:77259734..77259734hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545333
Supporting Variants
SamplesNA19240
Known GenesANGEL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376201
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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