A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512811



Internal ID289356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17015200..17019327hg38UCSC Ensembl
chr12:17168134..17172261hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054425
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512811
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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