A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510471



Internal ID287088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49955900..49955971hg38UCSC Ensembl
chr12:50349683..50349754hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056430
Samples
Known GenesAQP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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