A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354873



Internal ID22267401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152833261..152833261hg38UCSC Ensembl
chrX:152001805..152001805hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565764
Supporting Variants
SamplesNA19238
Known GenesNSDHL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14354873
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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