A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352222



Internal ID21009775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230180467..230272342hg38UCSC Ensembl
chr2:231045183..231137057hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3891876
hg1991875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206184
Samples
Known GenesSP110, SP140
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352222
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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