A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439918



Internal ID22236517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30868509..30868579hg38UCSC Ensembl
chrX:30886626..30886696hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281977
Supporting Variants
SamplesHG00733
Known GenesTAB3
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)nssv14439918
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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