A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393257



Internal ID22309292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55033441..55033441hg38UCSC Ensembl
chr19:55544809..55544809hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550558
Supporting Variants
SamplesNA19240
Known GenesGP6
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)nssv14393257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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