A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458964



Internal ID21116517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51024545..51052675hg38UCSC Ensembl
chr12:51418328..51446458hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3828131
hg1928131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185842
Samples
Known GenesLETMD1, SLC11A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458964
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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