A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045418



Internal ID21177464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746445..49746445hg38UCSC Ensembl
chr3:49783878..49783878hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38589
hg19589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023957
SamplesNA12878
Known GenesIP6K1
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)nsv3045418
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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