A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454891



Internal ID22512768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68327226..68329275hg38UCSC Ensembl
chr12:68721006..68723055hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861905
Supporting Variants
Samples
Known GenesMDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454891
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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