A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342129



Internal ID20999682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228584401..228588800hg38UCSC Ensembl
chr2:229449117..229453516hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4302n223
Supporting Variantsnssv18206159
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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