A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228682



Internal ID20795722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45282737..45308192hg38UCSC Ensembl
chr6:45250474..45275929hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3825456
hg1925456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401129
Supporting Variants
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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