A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046218



Internal ID21178264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186547123..186547123hg38UCSC Ensembl
chr4:187468277..187468277hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032973
SamplesNA12878
Known GenesMTNR1A
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)nsv3046218
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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