A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351173



Internal ID22194251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49069208..49069324hg38UCSC Ensembl
chrX:48926744..48926976hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38117
hg19233
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525022
Supporting Variants
SamplesHG00731
Known GenesCCDC120
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351173
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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