A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910834



Internal ID22686046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15415549..15420687hg38UCSC Ensembl
chr12:15568483..15573621hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385139
hg195139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364057
Samples
Known GenesPTPRO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910834
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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