A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353565



Internal ID22171148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129784903..129785052hg38UCSC Ensembl
chrX:128918879..128919028hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526079
Supporting Variants
SamplesHG00514
Known GenesSASH3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14353565
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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