A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053428



Internal ID21185431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47233765..47233816hg38UCSC Ensembl
chrX:47093164..47093215hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1652n140
Supporting Variantsnssv14022585
SamplesNA12878
Known GenesUSP11
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3053428
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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