A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378377



Internal ID22316062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101900285..101900337hg38UCSC Ensembl
chrX:101155258..101155310hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244399
Supporting Variants
SamplesNA19240
Known GenesZMAT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378377
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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