A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975134



Internal ID22750069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61397380..61397380hg38UCSC Ensembl
chr20:59972436..59972436hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397759
Samples
Known GenesCDH4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975134
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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