A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503809



Internal ID280623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100151576..100173964hg38UCSC Ensembl
chr12:100545354..100567742hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3822389
hg1922389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690301
Samples
Known GenesGOLGA2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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