A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017374



Internal ID21169264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98214200..98214270hg38UCSC Ensembl
chr9:100976482..100976552hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3053381
Supporting Variants
SamplesNA12878
Known GenesTBC1D2
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)nssv14017374
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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