A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185946



Internal ID20752986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:555906..608928hg38UCSC Ensembl
chr12:665072..718094hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3853023
hg1953023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456012
Supporting Variants
Samples
Known GenesB4GALNT3, NINJ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185946
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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