A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060139



Internal ID21191829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41411872..41411944hg38UCSC Ensembl
chr5:41411974..41412046hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022398
SamplesCHM1
Known GenesPLCXD3
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)nsv3060139
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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