A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340136



Internal ID20997689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178107201..178115300hg38UCSC Ensembl
chr2:178971928..178980027hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208054
Samples
Known GenesPDE11A, RBM45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340136
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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