A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365716



Internal ID22591385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102082035..102082197hg38UCSC Ensembl
chr12:102475813..102475975hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933059
Supporting Variants
Samples
Known GenesNUP37
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365716
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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