A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455316



Internal ID22249764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152182689..152182689hg38UCSC Ensembl
chrX:151351161..151351161hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540869
Supporting Variants
SamplesHG00733
Known GenesGABRA3
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)nssv14455316
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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