A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873747



Internal ID22648695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105821737..105821855hg38UCSC Ensembl
chr2:106438193..106438311hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389812
Samples
Known GenesNCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873747
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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