A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056818



Internal ID105714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47515540..47516032hg38UCSC Ensembl
chr12:47909323..47909815hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501662
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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