A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048308



Internal ID21180355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65659325..65659325hg38UCSC Ensembl
chr2:114178696..114178696hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032695
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)nsv3048308
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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