A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345551



Internal ID21003104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213530505..213564518hg38UCSC Ensembl
chr2:214395229..214429242hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3834014
hg1934014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083079
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345551
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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