A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347137



Internal ID21004690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221468001..221472800hg38UCSC Ensembl
chr2:222332721..222337520hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086277
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347137
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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