A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053381



Internal ID21185384
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 StatusM
Merged Variants
Supporting Variantsnssv14017374
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)nsv3053381
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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