A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403941



Internal ID22297666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12924465..12924465hg38UCSC Ensembl
chrX:12942584..12942584hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538604
Supporting Variants
SamplesNA19240
Known GenesTLR8-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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