A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044794



Internal ID21176318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6565995..6565995hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019366
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)nsv3044794
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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