A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441051



Internal ID22237494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117029227..117029227hg38UCSC Ensembl
chr1:117571849..117571849hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538853
Supporting Variants
SamplesHG00733
Known GenesCD101
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)nssv14441051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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