A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391213



Internal ID22306525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9791970..9792076hg38UCSC Ensembl
chrX:9760010..9760116hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282463
Supporting Variants
SamplesNA19240
Known GenesSHROOM2
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)nssv14391213
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