A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202090



Internal ID22351297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148016133..148016278hg38UCSC Ensembl
chrX:147097653..147097798hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354161
SamplesHG00514
Known GenesFMR1NB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202090
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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