A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448120



Internal ID22223193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55456309..55456309hg38UCSC Ensembl
chr19:55967676..55967676hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3552678
Supporting Variants
SamplesHG00733
Known GenesISOC2
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)nssv14448120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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