A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999330



Internal ID20566370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132715322..132715630hg38UCSC Ensembl
chr12:133291908..133292216hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483163
Supporting Variants
Samples
Known GenesPGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999330
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0058


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