A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066786



Internal ID21198160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74109057..74109057hg38UCSC Ensembl
chr9:76723973..76723973hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036455
SamplesCHM1
Known GenesMIR6130
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)nsv3066786
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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