A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030273



Internal ID21162800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93914343..93914343hg38UCSC Ensembl
chr10:95674100..95674100hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054221
Supporting Variants
SamplesNA12878
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)nssv14030273
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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