A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512084



Internal ID288652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746359..15753569hg38UCSC Ensembl
chr12:15899293..15906503hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054337
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512084
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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