A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058376



Internal ID21190179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44863141..44863141hg38UCSC Ensembl
chr21:46283056..46283056hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019055
SamplesCHM1
Known GenesPTTG1IP
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)nsv3058376
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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