A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048804



Internal ID21180852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120413806..120413806hg38UCSC Ensembl
chr3:120132653..120132653hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036452
SamplesNA12878
Known GenesFSTL1
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)nsv3048804
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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