A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456474



Internal ID22214754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37506306..37506306hg38UCSC Ensembl
chr8:37363824..37363824hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381688
hg191688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537158
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)nssv14456474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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