A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001058



Internal ID20568098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4820363..4846373hg38UCSC Ensembl
chr12:4929529..4955539hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3826011
hg1926011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458156
Supporting Variants
Samples
Known GenesKCNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001058
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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