A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059158



Internal ID21190896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63674278..63674278hg38UCSC Ensembl
chr6:64384179..64384179hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023705
SamplesCHM1
Known GenesPHF3
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)nsv3059158
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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