A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454699



Internal ID22249251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107910815..107910815hg38UCSC Ensembl
chrX:107154045..107154045hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531130
Supporting Variants
SamplesHG00733
Known GenesMID2
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)nssv14454699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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