A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404881



Internal ID22462751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46023715..46030634hg38UCSC Ensembl
chr2:46250854..46257773hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386920
hg196920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880780
Supporting Variants
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404881
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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