A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349896



Internal ID22299895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12924466..12924466hg38UCSC Ensembl
chrX:12942585..12942585hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565755
Supporting Variants
SamplesNA19240
Known GenesTLR8-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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