A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906856



Internal ID22682060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131602463..131604807hg38UCSC Ensembl
chr2:132360036..132362380hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382345
hg192345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399359
Samples
Known GenesPOTEKP, RNU6-81P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906856
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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