A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357459



Internal ID22583128
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 StatusS
Merged Variantsnsv5933006
Supporting Variants
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357459
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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