A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181211



Internal ID20748251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48663801..48736000hg38UCSC Ensembl
chr12:49057584..49129783hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3872200
hg1972200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457332
Supporting Variants
Samples
Known GenesCCNT1, KANSL2, LINC00935, SNORA2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181211
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02632


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