A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031462



Internal ID21153701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115403449..115403552hg38UCSC Ensembl
chrX:114638023..114638276hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38104
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058766
Supporting Variants
SamplesCHM1
Known Genes
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)nssv14031462
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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