A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444540



Internal ID22240515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60350059..60350059hg38UCSC Ensembl
chr15:60642258..60642258hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557284
Supporting Variants
SamplesHG00733
Known GenesANXA2
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)nssv14444540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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