A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060126



Internal ID21191816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168967427..168967740hg38UCSC Ensembl
chr5:168394432..168394745hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030234
SamplesCHM1
Known GenesSLIT3
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)nsv3060126
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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