A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733283



Internal ID156949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57218391..57218702hg38UCSC Ensembl
chr20:55793447..55793758hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146222
Supporting Variants
Samples
Known GenesBMP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01378


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