A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403262



Internal ID22327912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123260476..123260476hg38UCSC Ensembl
chrX:122394327..122394327hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535763
Supporting Variants
SamplesNA19240
Known GenesGRIA3
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)nssv14403262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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