A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2803283



Internal ID21248621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440328..40440550hg38UCSC Ensembl
chr21:41812255..41812477hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705486
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2803283
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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