A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440697



Internal ID22237185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172572118..172572118hg38UCSC Ensembl
chr1:172541258..172541258hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539154
Supporting Variants
SamplesHG00733
Known GenesSUCO
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)nssv14440697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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