A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448048



Internal ID22243561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51345940..51345940hg38UCSC Ensembl
chr19:51849194..51849194hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551937
Supporting Variants
SamplesHG00733
Known GenesETFB
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)nssv14448048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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