A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5667638



Internal ID21615943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40183095..40183095hg38UCSC Ensembl
chr21:41555022..41555022hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17119108, nssv17119107
SamplesHG00731, NA12329
Known GenesDSCAM
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5667638
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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