A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350817



Internal ID22278067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30636017..30636606hg38UCSC Ensembl
chrX:30654134..30654723hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200966
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350817
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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