A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946730



Internal ID22722226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118024022..118024144hg38UCSC Ensembl
chr12:118461827..118461949hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365924
Samples
Known GenesRFC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946730
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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