A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449956



Internal ID22507827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76496574..76497573hg38UCSC Ensembl
chr12:76890354..76891353hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854589
Supporting Variants
Samples
Known GenesOSBPL8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449956
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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