A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756602



Internal ID20532462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49962504..49962504hg38UCSC Ensembl
chr12:50356287..50356287hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260503
Samples
Known GenesAQP5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756602
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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