A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457417



Internal ID22515298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93413937..93428294hg38UCSC Ensembl
chr12:93807713..93822070hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3814358
hg1914358
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863143
Supporting Variants
Samples
Known GenesUBE2N
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457417
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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