A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802127



Internal ID21247465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42324091..42324091hg38UCSC Ensembl
chr1:42789762..42789762hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13701611
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802127
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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