A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502134



Internal ID279011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7518468..7524766hg38UCSC Ensembl
chr12:7671064..7677362hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386299
hg196299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056060
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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