A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060875



Internal ID21192540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17094667..17094667hg38UCSC Ensembl
chr22:17575557..17575557hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030991
SamplesCHM1
Known GenesIL17RA
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)nsv3060875
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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