A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527111



Internal ID303217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56496059..56496636hg38UCSC Ensembl
chr20:55071115..55071692hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733234
Samples
Known GenesGCNT7, RTFDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527111
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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