A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937846



Internal ID22713219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109827755..109827886hg38UCSC Ensembl
chr12:110265560..110265691hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362265
Samples
Known GenesTRPV4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937846
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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