A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465970



Internal ID21123523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50254801..50256300hg38UCSC Ensembl
chr12:50648584..50650083hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180892
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465970
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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