A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347208



Internal ID21004761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27086901..27094600hg38UCSC Ensembl
chr2:27309769..27317468hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085686
Samples
Known GenesKHK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347208
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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