A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049307



Internal ID21181355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179936552..179937017hg38UCSC Ensembl
chr3:179654340..179654805hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018627
SamplesNA12878
Known GenesPEX5L
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)nsv3049307
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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