A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044943



Internal ID21176671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4224715..4224715hg38UCSC Ensembl
chr20:4205362..4205362hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032255
SamplesNA12878
Known GenesADRA1D
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)nsv3044943
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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