A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935563



Internal ID22710907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110055841..110056279hg38UCSC Ensembl
chr12:110493646..110494084hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365933
Samples
Known GenesC12orf76
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935563
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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