A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365924



Internal ID22591593
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 StatusS
Merged Variantsnsv5946730
Supporting Variants
Samples
Known GenesRFC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365924
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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