A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117246



Internal ID21456492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62349826..62349826hg38UCSC Ensembl
chr20:60924882..60924882hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669519
Supporting Variants
SamplesHG02492
Known GenesLAMA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117246
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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