A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046713



Internal ID21178759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82888385..82888385hg38UCSC Ensembl
chr4:83809538..83809538hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021051
SamplesNA12878
Known GenesSEC31A
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)nsv3046713
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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