A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339210



Internal ID20996763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190527701..190542900hg38UCSC Ensembl
chr2:191392427..191407626hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3815200
hg1915200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4230n223
Supporting Variantsnssv18205424
Samples
Known GenesTMEM194B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339210
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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