A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880921



Internal ID22655892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62966798..62966883hg38UCSC Ensembl
chr2:63193933..63194018hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402118
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880921
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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