A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046603



Internal ID21178649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135456374..135456374hg38UCSC Ensembl
chr9:138348220..138348220hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017698
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)nsv3046603
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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