A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425680



Internal ID22165695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55897015..55897015hg38UCSC Ensembl
chr5:55192843..55192843hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538449
Supporting Variants
SamplesHG00514
Known GenesIL31RA
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)nssv14425680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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