A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517749



Internal ID20891110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47031525..47048197hg38UCSC Ensembl
chr18:44557896..44574568hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3816673
hg1916673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195434
Samples
Known GenesKATNAL2, TCEB3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517749
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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