A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390503



Internal ID22293307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69491111..69491111hg38UCSC Ensembl
chr17:67487252..67487252hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551639
Supporting Variants
SamplesNA19240
Known GenesMAP2K6
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)nssv14390503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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