A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202301



Internal ID22351484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31391230..31391830hg38UCSC Ensembl
chrX:31409347..31409947hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351610, nssv14351608, nssv14351609
SamplesHG00732, HG00513, HG00514
Known GenesDMD
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202301
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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