A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438695



Internal ID22232722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141584280..141590167hg38UCSC Ensembl
chrX:140672402..140678294hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg385888
hg195893
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187972
Supporting Variants
SamplesHG00733
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438695
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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