A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17610258



Internal ID21802305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49962519..49962519hg38UCSC Ensembl
chr12:50356302..50356302hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6089452
Supporting Variants
Samples
Known GenesAQP5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17610258
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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