A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933006



Internal ID22708313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44792156..44796039hg38UCSC Ensembl
chr12:45185939..45189822hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383884
hg193884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357459
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933006
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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