A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346790



Internal ID21004343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213930853..214156032hg38UCSC Ensembl
chr2:214795577..215020756hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38225180
hg19225180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4276n223
Supporting Variantsnssv18208161
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346790
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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