A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056845



Internal ID105732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47769649..47769714hg38UCSC Ensembl
chr12:48163432..48163497hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499806
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056845
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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