A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439909



Internal ID22231518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27527989..27528041hg38UCSC Ensembl
chrX:27546106..27546158hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281247
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)nssv14439909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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