A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888720



Internal ID22663730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134920521..134920574hg38UCSC Ensembl
chr2:135678091..135678144hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399277
Samples
Known GenesCCNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888720
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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