A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413978



Internal ID22149340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211535151..211535151hg38UCSC Ensembl
chr1:211708493..211708493hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535081
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)nssv14413978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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