A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458558



Internal ID22212662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133081335..133081335hg38UCSC Ensembl
chrX:132215363..132215363hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531950
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14458558
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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