A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203134



Internal ID22352196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130955319..130958860hg38UCSC Ensembl
chrX:130089293..130092834hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg383542
hg193542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354236, nssv14354235
SamplesHG00512, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203134
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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