A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404313



Internal ID22287841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29802918..29802918hg38UCSC Ensembl
chrX:29821035..29821035hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533697
Supporting Variants
SamplesNA19240
Known GenesIL1RAPL1
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)nssv14404313
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