A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056432



Internal ID105441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49956128..49963000hg38UCSC Ensembl
chr12:50349911..50356783hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386873
hg196873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143433
Supporting Variants
Samples
Known GenesAQP2, AQP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000815


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