A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460483



Internal ID22213039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899146..14899146hg38UCSC Ensembl
chrX:14917268..14917268hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534354
Supporting Variants
SamplesHG00733
Known GenesMOSPD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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