A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897833



Internal ID22672941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131139590..131139767hg38UCSC Ensembl
chr2:131897163..131897340hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404128
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897833
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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