A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024451



Internal ID21173970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393686..100393686hg38UCSC Ensembl
chr3:100112530..100112530hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045121
Supporting Variants
SamplesNA12878
Known GenesTOMM70A
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)nssv14024451
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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