A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365699



Internal ID22120026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96238584..96240207hg38UCSC Ensembl
chr12:96632362..96633985hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214489
Supporting Variants
SamplesHG00512
Known GenesELK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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