A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487172



Internal ID21144725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122966538..122969206hg38UCSC Ensembl
chr12:123451085..123453753hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382669
hg192669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998760
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487172
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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