A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521048



Internal ID297352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51550508..51551944hg38UCSC Ensembl
chr20:50167047..50168483hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732943
Samples
Known GenesNFATC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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