A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469611



Internal ID21127164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45185131..45187153hg38UCSC Ensembl
chr12:45578914..45580936hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000384
Samples
Known GenesPLEKHA8P1, RNY5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469611
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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