A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020991



Internal ID21155677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47233769..47233822hg38UCSC Ensembl
chrX:47093168..47093221hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060734
Supporting Variants
SamplesCHM1
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)nssv14020991
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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