A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193842



Internal ID20760882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22503144..22505376hg38UCSC Ensembl
chr12:22656078..22658310hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472454
Supporting Variants
Samples
Known GenesC2CD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193842
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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