A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200626



Internal ID22350045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40946807..40956266hg38UCSC Ensembl
chrX:40806060..40815519hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg389460
hg199460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350348, nssv14350349
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200626
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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