A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065418



Internal ID21196853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633648..115634123hg38UCSC Ensembl
chr5:114969345..114969820hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033766
SamplesCHM1
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)nsv3065418
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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