A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180289



Internal ID20747329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21656201..21681800hg38UCSC Ensembl
chr12:21809135..21834734hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3825600
hg1925600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459058
Supporting Variants
Samples
Known GenesLDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180289
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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