A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045104



Internal ID21176948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46680589..46680589hg38UCSC Ensembl
chr22:47076486..47076486hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028354
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)nsv3045104
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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