A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190140



Internal ID20757180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118070061..118072248hg38UCSC Ensembl
chr12:118507866..118510053hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382188
hg192188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482775
Supporting Variants
Samples
Known GenesVSIG10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190140
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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