A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487948



Internal ID21145501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124993401..124994800hg38UCSC Ensembl
chr12:125477947..125479346hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997305
Samples
Known GenesBRI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487948
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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