A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804086



Internal ID21249424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40183096..40183096hg38UCSC Ensembl
chr21:41555023..41555023hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13678186
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804086
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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