A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354161



Internal ID22174494
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202090
Supporting Variants
SamplesHG00514
Known GenesFMR1NB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14354161
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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