A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200966



Internal ID22350342
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350817, nssv14350818
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200966
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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