A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344183



Internal ID21001736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214250781..214308412hg38UCSC Ensembl
chr2:215115505..215173136hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3857632
hg1957632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208168
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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