A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461947



Internal ID21119500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52992110..53001661hg38UCSC Ensembl
chr12:53385894..53395445hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg389552
hg199552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001425
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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