A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064651



Internal ID21196131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69745986..69745986hg38UCSC Ensembl
chr14:70212703..70212703hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036410
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)nsv3064651
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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