A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336106



Internal ID20993659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136143..131137199hg38UCSC Ensembl
chr2:131893716..131894772hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076437
Samples
Known GenesPLEKHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336106
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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