A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887493



Internal ID22662485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105822290..105824272hg38UCSC Ensembl
chr2:106438746..106440728hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381983
hg191983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391183
Samples
Known GenesNCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887493
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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