A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5635250



Internal ID21583555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21693782..21693782hg38UCSC Ensembl
chr8:21551294..21551294hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17149410
SamplesHG00731
Known GenesGFRA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5635250
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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