A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181896



Internal ID20748936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1304829..1312443hg38UCSC Ensembl
chr12:1413995..1421609hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387615
hg197615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462196
Supporting Variants
Samples
Known GenesERC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181896
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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