A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398773



Internal ID22307508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180015609..180015609hg38UCSC Ensembl
chr5:179442609..179442609hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537548
Supporting Variants
SamplesNA19240
Known GenesRNF130
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)nssv14398773
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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