A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412833



Internal ID22148071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102093648..102093648hg38UCSC Ensembl
chr1:102559204..102559204hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542281
Supporting Variants
SamplesHG00514
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)nssv14412833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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