A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053409



Internal ID21185412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151916132..151916817hg38UCSC Ensembl
chrX:151084604..151085289hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022017
SamplesNA12878
Known GenesMAGEA4
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)nsv3053409
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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