A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063217



Internal ID21194747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63770938..63771015hg38UCSC Ensembl
chr20:62402291..62402368hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034177
SamplesNA12878
Known GenesZBTB46
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)nsv3063217
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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