A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182856



Internal ID20749896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87970101..87983700hg38UCSC Ensembl
chr12:88363878..88377477hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3813600
hg1913600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472551
Supporting Variants
Samples
Known GenesC12orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182856
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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