A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457784



Internal ID22251777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68108734..68108734hg38UCSC Ensembl
chr5:67404562..67404562hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532968
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14457784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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