A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338558



Internal ID20996111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120812866..120982222hg38UCSC Ensembl
chr2:121570441..121739798hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38169357
hg19169358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206565
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338558
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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