A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457995



Internal ID21115548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55667300..55676047hg38UCSC Ensembl
chr12:56061084..56069831hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388748
hg198748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192312
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457995
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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