A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461125



Internal ID22519008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100481631..100483771hg38UCSC Ensembl
chr12:100875409..100877549hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382141
hg192141
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852720
Supporting Variants
Samples
Known GenesNR1H4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461125
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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