A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458292



Internal ID21115845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16249917..16333469hg38UCSC Ensembl
chr12:16402851..16486403hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3883553
hg1983553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997688
Samples
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458292
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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