A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2817458



Internal ID21262796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84091214..84091214hg38UCSC Ensembl
chr7:83720530..83720530hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13710211
Samples
Known GenesSEMA3A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2817458
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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