A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485348



Internal ID21142901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114804231..114811833hg38UCSC Ensembl
chr12:115242036..115249638hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg387603
hg197603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997060
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485348
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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