A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417745



Internal ID22154100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100058243..100058243hg38UCSC Ensembl
chr15:100598448..100598448hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553843
Supporting Variants
SamplesHG00514
Known GenesADAMTS17
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)nssv14417745
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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