A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020533



Internal ID21171419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38217245..38217402hg38UCSC Ensembl
chr22:38613252..38613409hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050416
Supporting Variants
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)nssv14020533
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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