A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2803682



Internal ID21249020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44863121..44863121hg38UCSC Ensembl
chr21:46283036..46283036hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13684762
Samples
Known GenesPTTG1IP
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2803682
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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