A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510161



Internal ID286789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10965525..10977604hg38UCSC Ensembl
chr12:11118124..11130203hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812080
hg1912080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053082
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510161
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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