A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338704



Internal ID20996257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54912165..54913348hg38UCSC Ensembl
chr2:55139302..55140485hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087558
Samples
Known GenesEML6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338704
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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