A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458162



Internal ID22516043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114767400..114772642hg38UCSC Ensembl
chr12:115205205..115210447hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385243
hg195243
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852046
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458162
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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