A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060248



Internal ID21191938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89536470..89536470hg38UCSC Ensembl
chr16:89602878..89602878hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032389
SamplesCHM1
Known GenesSPG7
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)nsv3060248
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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