A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430880



Internal ID22173204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48147496..48147576hg38UCSC Ensembl
chr14:48616699..48616779hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190838
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430880
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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