A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455532



Internal ID22249932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151373624..151373624hg38UCSC Ensembl
chrX:150542096..150542096hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533845
Supporting Variants
SamplesHG00733
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)nssv14455532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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