A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622258



Internal ID21570563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162689819..162689819hg38UCSC Ensembl
chr1:162659609..162659609hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060865
SamplesHG03683
Known GenesDDR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622258
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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