A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5669900



Internal ID21618205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62349799..62349799hg38UCSC Ensembl
chr20:60924855..60924855hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117422
SamplesHG00731
Known GenesLAMA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5669900
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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