A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208598



Internal ID22356813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79816718..79817023hg38UCSC Ensembl
chrX:79072215..79072520hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14352364, nssv14352359, nssv14352360, nssv14352363, nssv14352362, nssv14352361
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208598
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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