A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906041



Internal ID22681235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168905800..168907132hg38UCSC Ensembl
chr2:169762310..169763642hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381333
hg191333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390332
Samples
Known GenesG6PC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906041
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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