A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403979



Internal ID22302024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65450628..65450628hg38UCSC Ensembl
chrX:64670508..64670508hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537830
Supporting Variants
SamplesNA19240
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)nssv14403979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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