A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943614



Internal ID22719065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100481658..100483726hg38UCSC Ensembl
chr12:100875436..100877504hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362203
Samples
Known GenesNR1H4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943614
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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