A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051342



Internal ID21183393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163551039..163551091hg38UCSC Ensembl
chr5:162978045..162978097hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028939
SamplesNA12878
Known Genes
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)nsv3051342
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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