A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403162



Internal ID22318847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:39247289..39247289hg38UCSC Ensembl
chrX:39106542..39106542hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535628
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer