A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2813104



Internal ID21258442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151090945..151090945hg38UCSC Ensembl
chr6:151412081..151412081hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13698908
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2813104
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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